Dépouillements

An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome / R. AZUMA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.1 Titre : An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : R. AZUMA, Auteur ; Quinton DEELEY, Auteur ; Linda E. CAMPBELL, Auteur ; Eileen DALY, Auteur ; V. GIAMPIETRO, Auteur ; Michael BRAMMER, Auteur ; K. C. MURPHY, Auteur ; D. G. MURPHY, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome (22q11DS)  Children  Emotion  Social cognition  Velo-cardio-facial syndrome (VCFS)  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and abstract reasoning. These face-processing deficits may contribute to the social impairments of 22q11DS. However, their neurobiological basis is poorly understood. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to examine neural responses when children with 22q11DS (aged 9-17 years) and healthy controls (aged 8-17 years) incidentally processed neutral expressions and mild (50%) and intense (100%) expressions of fear and disgust. We included 28 right-handed children and adolescents: 14 with 22q11DS and 14 healthy (including nine siblings) controls. RESULTS: Within groups, contrasts showed that individuals significantly activated 'face responsive' areas when viewing neutral faces, including fusiform-extrastriate cortices. Further, within both groups, there was a significant positive linear trend in activation of fusiform-extrastriate cortices and cerebellum to increasing intensities of fear. There were, however, also between-group differences. Children with 22q11DS generally showed reduced activity as compared to controls in brain regions involved in social cognition and emotion processing across emotion types and intensities, including fusiform-extrastriate cortices, anterior cingulate cortex (Brodmann area (BA) 24/32), and superomedial prefrontal cortices (BA 6). Also, an exploratory correlation analysis showed that within 22q11DS children reduced activation was associated with behavioural impairment-social difficulties (measured using the Total Difficulties Score from the Strengths and Difficulties Questionnaire [SDQ]) were significantly negatively correlated with brain activity during fear and disgust processing (respectively) in the left precentral gyrus (BA 4) and in the left fusiform gyrus (FG, BA 19), right lingual gyrus (BA 18), and bilateral cerebellum. CONCLUSIONS: Regions involved in face processing, including fusiform-extrastriate cortices, anterior cingulate gyri, and superomedial prefrontal cortices (BA 6), are activated by facial expressions of fearful, disgusted, and neutral expressions in children with 22q11DS but generally to a lesser degree than in controls. Hypoactivation in these regions may partly explain the social impairments of children with 22q11DS. En ligne : http://dx.doi.org/10.1186/1866-1955-7-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / R. AZUMA, Auteur ; Quinton DEELEY, Auteur ; Linda E. CAMPBELL, Auteur ; Eileen DALY, Auteur ; V. GIAMPIETRO, Auteur ; Michael BRAMMER, Auteur ; K. C. MURPHY, Auteur ; D. G. MURPHY, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.1 Mots-clés : 22q11.2 deletion syndrome (22q11DS)  Children  Emotion  Social cognition  Velo-cardio-facial syndrome (VCFS)  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and abstract reasoning. These face-processing deficits may contribute to the social impairments of 22q11DS. However, their neurobiological basis is poorly understood. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to examine neural responses when children with 22q11DS (aged 9-17 years) and healthy controls (aged 8-17 years) incidentally processed neutral expressions and mild (50%) and intense (100%) expressions of fear and disgust. We included 28 right-handed children and adolescents: 14 with 22q11DS and 14 healthy (including nine siblings) controls. RESULTS: Within groups, contrasts showed that individuals significantly activated 'face responsive' areas when viewing neutral faces, including fusiform-extrastriate cortices. Further, within both groups, there was a significant positive linear trend in activation of fusiform-extrastriate cortices and cerebellum to increasing intensities of fear. There were, however, also between-group differences. Children with 22q11DS generally showed reduced activity as compared to controls in brain regions involved in social cognition and emotion processing across emotion types and intensities, including fusiform-extrastriate cortices, anterior cingulate cortex (Brodmann area (BA) 24/32), and superomedial prefrontal cortices (BA 6). Also, an exploratory correlation analysis showed that within 22q11DS children reduced activation was associated with behavioural impairment-social difficulties (measured using the Total Difficulties Score from the Strengths and Difficulties Questionnaire [SDQ]) were significantly negatively correlated with brain activity during fear and disgust processing (respectively) in the left precentral gyrus (BA 4) and in the left fusiform gyrus (FG, BA 19), right lingual gyrus (BA 18), and bilateral cerebellum. CONCLUSIONS: Regions involved in face processing, including fusiform-extrastriate cortices, anterior cingulate gyri, and superomedial prefrontal cortices (BA 6), are activated by facial expressions of fearful, disgusted, and neutral expressions in children with 22q11DS but generally to a lesser degree than in controls. Hypoactivation in these regions may partly explain the social impairments of children with 22q11DS. En ligne : http://dx.doi.org/10.1186/1866-1955-7-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

There is variability in the attainment of developmental milestones in the CDKL5 disorder / S. FEHR in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.2 Titre : There is variability in the attainment of developmental milestones in the CDKL5 disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. FEHR, Auteur ; H. LEONARD, Auteur ; G. HO, Auteur ; S. WILLIAMS, Auteur ; N. DE KLERK, Auteur ; D. FORBES, Auteur ; J. CHRISTODOULOU, Auteur ; J. DOWNS, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Mots-clés : CDKL5 disorder  Developmental disabilities  Early infantile epileptic encephalopathy  Epileptic encephalopathy Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype. METHODS: Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment. RESULTS: The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones. CONCLUSION: Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability. En ligne : http://dx.doi.org/10.1186/1866-1955-7-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] There is variability in the attainment of developmental milestones in the CDKL5 disorder [Texte imprimé et/ou numérique] / S. FEHR, Auteur ; H. LEONARD, Auteur ; G. HO, Auteur ; S. WILLIAMS, Auteur ; N. DE KLERK, Auteur ; D. FORBES, Auteur ; J. CHRISTODOULOU, Auteur ; J. DOWNS, Auteur . - p.2. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.2 Mots-clés : CDKL5 disorder  Developmental disabilities  Early infantile epileptic encephalopathy  Epileptic encephalopathy Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype. METHODS: Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment. RESULTS: The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones. CONCLUSION: Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability. En ligne : http://dx.doi.org/10.1186/1866-1955-7-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis / T. VERREET in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.3 Titre : A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis Type de document : Texte imprimé et/ou numérique Auteurs : T. VERREET, Auteur ; R. QUINTENS, Auteur ; D. VAN DAM, Auteur ; M. VERSLEGERS, Auteur ; M. TANORI, Auteur ; A. CASCIATI, Auteur ; M. NEEFS, Auteur ; L. LEYSEN, Auteur ; A. MICHAUX, Auteur ; A. JANSSEN, Auteur ; E. D'AGOSTINO, Auteur ; G. VANDE VELDE, Auteur ; S. BAATOUT, Auteur ; L. MOONS, Auteur ; S. PAZZAGLIA, Auteur ; A. SARAN, Auteur ; U. HIMMELREICH, Auteur ; P. P. DE DEYN, Auteur ; M. A. BENOTMANE, Auteur Article en page(s) : p.3 Langues : Anglais (eng) Mots-clés : Apoptosis  Brain development  Cognitive dysfunction  Mri  Radiation Index. décimale : PER Périodiques Résumé : BACKGROUND: In humans, in utero exposure to ionising radiation results in an increased prevalence of neurological aberrations, such as small head size, mental retardation and decreased IQ levels. Yet, the association between early damaging events and long-term neuronal anomalies remains largely elusive. METHODS: Mice were exposed to different X-ray doses, ranging between 0.0 and 1.0 Gy, at embryonic days (E) 10, 11 or 12 and subjected to behavioural tests at 12 weeks of age. Underlying mechanisms of irradiation at E11 were further unravelled using magnetic resonance imaging (MRI) and spectroscopy, diffusion tensor imaging, gene expression profiling, histology and immunohistochemistry. RESULTS: Irradiation at the onset of neurogenesis elicited behavioural changes in young adult mice, dependent on the timing of exposure. As locomotor behaviour and hippocampal-dependent spatial learning and memory were most particularly affected after irradiation at E11 with 1.0 Gy, this condition was used for further mechanistic analyses, focusing on the cerebral cortex and hippocampus. A classical p53-mediated apoptotic response was found shortly after exposure. Strikingly, in the neocortex, the majority of apoptotic and microglial cells were residing in the outer layer at 24 h after irradiation, suggesting cell death occurrence in differentiating neurons rather than proliferating cells. Furthermore, total brain volume, cortical thickness and ventricle size were decreased in the irradiated embryos. At 40 weeks of age, MRI showed that the ventricles were enlarged whereas N-acetyl aspartate concentrations and functional anisotropy were reduced in the cortex of the irradiated animals, indicating a decrease in neuronal cell number and persistent neuroinflammation. Finally, in the hippocampus, we revealed a reduction in general neurogenic proliferation and in the amount of Sox2-positive precursors after radiation exposure, although only at a juvenile age. CONCLUSIONS: Our findings provide evidence for a radiation-induced disruption of mouse brain development, resulting in behavioural differences. We propose that alterations in cortical morphology and juvenile hippocampal neurogenesis might both contribute to the observed aberrant behaviour. Furthermore, our results challenge the generally assumed view of a higher radiosensitivity in dividing cells. Overall, this study offers new insights into irradiation-dependent effects in the embryonic brain, of relevance for the neurodevelopmental and radiobiological field. En ligne : http://dx.doi.org/10.1186/1866-1955-7-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis [Texte imprimé et/ou numérique] / T. VERREET, Auteur ; R. QUINTENS, Auteur ; D. VAN DAM, Auteur ; M. VERSLEGERS, Auteur ; M. TANORI, Auteur ; A. CASCIATI, Auteur ; M. NEEFS, Auteur ; L. LEYSEN, Auteur ; A. MICHAUX, Auteur ; A. JANSSEN, Auteur ; E. D'AGOSTINO, Auteur ; G. VANDE VELDE, Auteur ; S. BAATOUT, Auteur ; L. MOONS, Auteur ; S. PAZZAGLIA, Auteur ; A. SARAN, Auteur ; U. HIMMELREICH, Auteur ; P. P. DE DEYN, Auteur ; M. A. BENOTMANE, Auteur . - p.3. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.3 Mots-clés : Apoptosis  Brain development  Cognitive dysfunction  Mri  Radiation Index. décimale : PER Périodiques Résumé : BACKGROUND: In humans, in utero exposure to ionising radiation results in an increased prevalence of neurological aberrations, such as small head size, mental retardation and decreased IQ levels. Yet, the association between early damaging events and long-term neuronal anomalies remains largely elusive. METHODS: Mice were exposed to different X-ray doses, ranging between 0.0 and 1.0 Gy, at embryonic days (E) 10, 11 or 12 and subjected to behavioural tests at 12 weeks of age. Underlying mechanisms of irradiation at E11 were further unravelled using magnetic resonance imaging (MRI) and spectroscopy, diffusion tensor imaging, gene expression profiling, histology and immunohistochemistry. RESULTS: Irradiation at the onset of neurogenesis elicited behavioural changes in young adult mice, dependent on the timing of exposure. As locomotor behaviour and hippocampal-dependent spatial learning and memory were most particularly affected after irradiation at E11 with 1.0 Gy, this condition was used for further mechanistic analyses, focusing on the cerebral cortex and hippocampus. A classical p53-mediated apoptotic response was found shortly after exposure. Strikingly, in the neocortex, the majority of apoptotic and microglial cells were residing in the outer layer at 24 h after irradiation, suggesting cell death occurrence in differentiating neurons rather than proliferating cells. Furthermore, total brain volume, cortical thickness and ventricle size were decreased in the irradiated embryos. At 40 weeks of age, MRI showed that the ventricles were enlarged whereas N-acetyl aspartate concentrations and functional anisotropy were reduced in the cortex of the irradiated animals, indicating a decrease in neuronal cell number and persistent neuroinflammation. Finally, in the hippocampus, we revealed a reduction in general neurogenic proliferation and in the amount of Sox2-positive precursors after radiation exposure, although only at a juvenile age. CONCLUSIONS: Our findings provide evidence for a radiation-induced disruption of mouse brain development, resulting in behavioural differences. We propose that alterations in cortical morphology and juvenile hippocampal neurogenesis might both contribute to the observed aberrant behaviour. Furthermore, our results challenge the generally assumed view of a higher radiosensitivity in dividing cells. Overall, this study offers new insights into irradiation-dependent effects in the embryonic brain, of relevance for the neurodevelopmental and radiobiological field. En ligne : http://dx.doi.org/10.1186/1866-1955-7-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Neurodevelopment for syntactic processing distinguishes childhood stuttering recovery versus persistence / E. USLER in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.4 Titre : Neurodevelopment for syntactic processing distinguishes childhood stuttering recovery versus persistence Type de document : Texte imprimé et/ou numérique Auteurs : E. USLER, Auteur ; C. WEBER-FOX, Auteur Article en page(s) : p.4 Langues : Anglais (eng) Mots-clés : Children  Event-related potentials  Language development  Language processing  N400  P600  Stuttering Index. décimale : PER Périodiques Résumé : BACKGROUND: Characterized by the presence of involuntary speech disfluencies, developmental stuttering is a neurodevelopmental disorder of atypical speech-motor coordination. Although the etiology of stuttering is multifactorial, language development during early childhood may influence both the onset of the disorder and the likelihood of recovery. The purpose of this study was to determine whether differences in neural indices mediating language processing are associated with persistence or recovery in school-age children who stutter. METHODS: Event-related brain potentials (ERPs) were obtained from 31 6-7-year-olds, including nine children who do not stutter (CWNS), 11 children who had recovered from stuttering (CWS-Rec), and 11 children who persisted in stuttering (CWS-Per), matched for age, and all with similar socioeconomic status, nonverbal intelligence, and language ability. We examined ERPs elicited by semantic and syntactic (phrase structure) violations within an auditory narrative consisting of English and Jabberwocky sentences. In Jabberwocky sentences, content words were replaced with pseudowords to limit semantic context. A mixed effects repeated measures analysis of variance (ANOVA) was computed for ERP components with four within-subject factors, including condition, hemisphere, anterior/posterior distribution, and laterality. RESULTS: During the comprehension of English sentences, ERP activity mediating semantic and syntactic (phrase structure) processing did not distinguish CWS-Per, CWS-Rec, and CWNS. Semantic violations elicited a qualitatively similar N400 component across groups. Phrase structure violations within English sentences also elicited a similar P600 component in all groups. However, identical phrase structure violations within Jabberwocky sentences elicited a P600 in CWNS and CWS-Rec, but an N400-like effect in CWS-Per. CONCLUSIONS: The distinguishing neural patterns mediating syntactic, but not semantic, processing provide evidence that specific brain functions for some aspects of language processing may be associated with stuttering persistence. Unlike CWS-Rec and CWNS, the lack of semantic context in Jabberwocky sentences seemed to affect the syntactic processing strategies of CWS-Per, resulting in the elicitation of semantically based N400-like activity during syntactic (phrase structure) violations. This vulnerability suggests neural mechanisms associated with the processing of syntactic structure may be less mature in 6-7-year-old children whose stuttering persisted compared to their fluent or recovered peers. En ligne : http://dx.doi.org/10.1186/1866-1955-7-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Neurodevelopment for syntactic processing distinguishes childhood stuttering recovery versus persistence [Texte imprimé et/ou numérique] / E. USLER, Auteur ; C. WEBER-FOX, Auteur . - p.4. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.4 Mots-clés : Children  Event-related potentials  Language development  Language processing  N400  P600  Stuttering Index. décimale : PER Périodiques Résumé : BACKGROUND: Characterized by the presence of involuntary speech disfluencies, developmental stuttering is a neurodevelopmental disorder of atypical speech-motor coordination. Although the etiology of stuttering is multifactorial, language development during early childhood may influence both the onset of the disorder and the likelihood of recovery. The purpose of this study was to determine whether differences in neural indices mediating language processing are associated with persistence or recovery in school-age children who stutter. METHODS: Event-related brain potentials (ERPs) were obtained from 31 6-7-year-olds, including nine children who do not stutter (CWNS), 11 children who had recovered from stuttering (CWS-Rec), and 11 children who persisted in stuttering (CWS-Per), matched for age, and all with similar socioeconomic status, nonverbal intelligence, and language ability. We examined ERPs elicited by semantic and syntactic (phrase structure) violations within an auditory narrative consisting of English and Jabberwocky sentences. In Jabberwocky sentences, content words were replaced with pseudowords to limit semantic context. A mixed effects repeated measures analysis of variance (ANOVA) was computed for ERP components with four within-subject factors, including condition, hemisphere, anterior/posterior distribution, and laterality. RESULTS: During the comprehension of English sentences, ERP activity mediating semantic and syntactic (phrase structure) processing did not distinguish CWS-Per, CWS-Rec, and CWNS. Semantic violations elicited a qualitatively similar N400 component across groups. Phrase structure violations within English sentences also elicited a similar P600 component in all groups. However, identical phrase structure violations within Jabberwocky sentences elicited a P600 in CWNS and CWS-Rec, but an N400-like effect in CWS-Per. CONCLUSIONS: The distinguishing neural patterns mediating syntactic, but not semantic, processing provide evidence that specific brain functions for some aspects of language processing may be associated with stuttering persistence. Unlike CWS-Rec and CWNS, the lack of semantic context in Jabberwocky sentences seemed to affect the syntactic processing strategies of CWS-Per, resulting in the elicitation of semantically based N400-like activity during syntactic (phrase structure) violations. This vulnerability suggests neural mechanisms associated with the processing of syntactic structure may be less mature in 6-7-year-old children whose stuttering persisted compared to their fluent or recovered peers. En ligne : http://dx.doi.org/10.1186/1866-1955-7-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder / Marie M. CHANNELL in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.5 Titre : Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Marie M. CHANNELL, Auteur ; B. A. PHILLIPS, Auteur ; S. J. LOVEALL, Auteur ; F. A. CONNERS, Auteur ; P. M. BUSSANICH, Auteur ; L. G. KLINGER, Auteur Article en page(s) : p.5 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Comorbidity  Down syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD. METHODS: We examined patterns of scores from the five subscales of the Social Responsiveness Scale (SRS) in 46 individuals with DS (ages 10-21 years) without comorbid ASD relative to the published normative sample. We also explored the correlations between SRS symptomatology and age, nonverbal cognition, and receptive language. RESULTS: SRS scores were elevated (i.e., more ASD symptoms endorsed), with mean scores falling into the clinically significant range. Analysis by subscale revealed a specific pattern, with Autistic Mannerisms and Social Cognition scores significantly more elevated than Social Communication scores, which were significantly more elevated than Social Awareness and Social Motivation scores. Correlations between SRS scores and the other measures varied by subscale. CONCLUSIONS: General elevated ASD symptomatology on the SRS indicates the need for developing population-based norms specific to DS. The pattern of scores across subscales should inform clinicians of the typical range of behaviors observed in DS so that individuals with atypical patterns of behavior can be more easily identified and considered for a full ASD evaluation. En ligne : http://dx.doi.org/10.1186/1866-1955-7-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder [Texte imprimé et/ou numérique] / Marie M. CHANNELL, Auteur ; B. A. PHILLIPS, Auteur ; S. J. LOVEALL, Auteur ; F. A. CONNERS, Auteur ; P. M. BUSSANICH, Auteur ; L. G. KLINGER, Auteur . - p.5. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.5 Mots-clés : Autism spectrum disorder  Comorbidity  Down syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD. METHODS: We examined patterns of scores from the five subscales of the Social Responsiveness Scale (SRS) in 46 individuals with DS (ages 10-21 years) without comorbid ASD relative to the published normative sample. We also explored the correlations between SRS symptomatology and age, nonverbal cognition, and receptive language. RESULTS: SRS scores were elevated (i.e., more ASD symptoms endorsed), with mean scores falling into the clinically significant range. Analysis by subscale revealed a specific pattern, with Autistic Mannerisms and Social Cognition scores significantly more elevated than Social Communication scores, which were significantly more elevated than Social Awareness and Social Motivation scores. Correlations between SRS scores and the other measures varied by subscale. CONCLUSIONS: General elevated ASD symptomatology on the SRS indicates the need for developing population-based norms specific to DS. The pattern of scores across subscales should inform clinicians of the typical range of behaviors observed in DS so that individuals with atypical patterns of behavior can be more easily identified and considered for a full ASD evaluation. En ligne : http://dx.doi.org/10.1186/1866-1955-7-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Learning by observation and learning by doing in Prader-Willi syndrome / F. FOTI in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.6 Titre : Learning by observation and learning by doing in Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : F. FOTI, Auteur ; D. MENGHINI, Auteur ; E. ORLANDI, Auteur ; C. RUFINI, Auteur ; A. CRINO, Auteur ; S. SPERA, Auteur ; S. VICARI, Auteur ; L. PETROSINI, Auteur ; L. MANDOLESI, Auteur Article en page(s) : p.6 Langues : Anglais (eng) Mots-clés : Genetic disorders  Imitation  Learning by trial and error  Observational learning  Sequential learning  Social learning Index. décimale : PER Périodiques Résumé : BACKGROUND: New competencies may be learned through active experience (learning by doing) or observation of others' experience (learning by observation). Observing another person performing a complex action accelerates the observer's acquisition of the same action, limiting the time-consuming process of learning by doing. Here, we compared learning by observation and learning by doing in individuals with Prader-Willi syndrome (PWS). It is hypothesized that PWS individuals could show more difficulties with learning by observation than learning by doing because of their specific difficulty in interpreting and using social information. METHODS: The performance of 24 PWS individuals was compared with that of 28 mental age (MA)- and gender-matched typically developing (TD) children in tasks of learning a visuo-motor sequence by observation or by doing. To determine whether the performance pattern exhibited by PWS participants was specific to this population or whether it was a nonspecific intellectual disability effect, we compared the PWS performances with those of a third MA- and gender-matched group of individuals with Williams syndrome (WS). RESULTS: PWS individuals were severely impaired in detecting a sequence by observation, were able to detect a sequence by doing, and became as efficient as TD children in reproducing an observed sequence after a task of learning by doing. The learning pattern of PWS children was reversed compared with that of WS individuals. CONCLUSIONS: The observational learning deficit in PWS individuals may be rooted, at least partially, in their incapacity to understand and/or use social information. En ligne : http://dx.doi.org/10.1186/s11689-015-9102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Learning by observation and learning by doing in Prader-Willi syndrome [Texte imprimé et/ou numérique] / F. FOTI, Auteur ; D. MENGHINI, Auteur ; E. ORLANDI, Auteur ; C. RUFINI, Auteur ; A. CRINO, Auteur ; S. SPERA, Auteur ; S. VICARI, Auteur ; L. PETROSINI, Auteur ; L. MANDOLESI, Auteur . - p.6. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.6 Mots-clés : Genetic disorders  Imitation  Learning by trial and error  Observational learning  Sequential learning  Social learning Index. décimale : PER Périodiques Résumé : BACKGROUND: New competencies may be learned through active experience (learning by doing) or observation of others' experience (learning by observation). Observing another person performing a complex action accelerates the observer's acquisition of the same action, limiting the time-consuming process of learning by doing. Here, we compared learning by observation and learning by doing in individuals with Prader-Willi syndrome (PWS). It is hypothesized that PWS individuals could show more difficulties with learning by observation than learning by doing because of their specific difficulty in interpreting and using social information. METHODS: The performance of 24 PWS individuals was compared with that of 28 mental age (MA)- and gender-matched typically developing (TD) children in tasks of learning a visuo-motor sequence by observation or by doing. To determine whether the performance pattern exhibited by PWS participants was specific to this population or whether it was a nonspecific intellectual disability effect, we compared the PWS performances with those of a third MA- and gender-matched group of individuals with Williams syndrome (WS). RESULTS: PWS individuals were severely impaired in detecting a sequence by observation, were able to detect a sequence by doing, and became as efficient as TD children in reproducing an observed sequence after a task of learning by doing. The learning pattern of PWS children was reversed compared with that of WS individuals. CONCLUSIONS: The observational learning deficit in PWS individuals may be rooted, at least partially, in their incapacity to understand and/or use social information. En ligne : http://dx.doi.org/10.1186/s11689-015-9102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study / K. BAKER in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.8 Titre : Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study Type de document : Texte imprimé et/ou numérique Auteurs : K. BAKER, Auteur ; G. SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; P. C. FLETCHER, Auteur ; F. L. RAYMOND, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Mots-clés : Cognition  Dlg3  Genetics  Intellectual disability  Maguk  Psychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However, it is not known whether risk for psychiatric symptoms amongst individuals with ID due to MAGUK gene mutations is higher than expected for the degree of general intellectual impairment, nor whether specific cognitive differences are associated with disruption to this gene functional network. METHODS: This study addresses these two questions via behavioural questionnaires and cognitive testing, applying quantitative methods previously validated in populations with ID. We compared males with X-linked ID caused by mutations in three MAGUK genes (PAK3, DLG3, OPHN1; n = 9) to males with ID caused by mutations in other X chromosome genes (n = 17). Non-parametric and parametric analyses were applied as appropriate to data. RESULTS: Groups did not differ in age, global cognitive impairment, adaptive function or epilepsy prevalence. However, individuals with MAGUK gene mutations demonstrated significantly higher psychopathology risks, comprising elevated total problem behaviours, prominent hyperactivity and elevated scores on an autism screening checklist. Despite these overt difficulties, individuals in the MAGUK group performed more accurately than expected for age and intelligence quotient (IQ) on computerised tests of visual attention, convergent with mouse models of MAGUK loss-of-function. CONCLUSIONS: Our findings support a role for MAGUK genes in influencing cognitive parameters relevant to psychiatric risk. In addition to establishing clear patterns of impairment for this group, our findings highlight the importance of careful phenotyping after genetic diagnosis, showing that gene functional network disruptions can be associated with specific psychopathological risks and cognitive differences within the context of ID. En ligne : http://dx.doi.org/10.1186/s11689-015-9105-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study [Texte imprimé et/ou numérique] / K. BAKER, Auteur ; G. SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; P. C. FLETCHER, Auteur ; F. L. RAYMOND, Auteur . - p.8. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.8 Mots-clés : Cognition  Dlg3  Genetics  Intellectual disability  Maguk  Psychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However, it is not known whether risk for psychiatric symptoms amongst individuals with ID due to MAGUK gene mutations is higher than expected for the degree of general intellectual impairment, nor whether specific cognitive differences are associated with disruption to this gene functional network. METHODS: This study addresses these two questions via behavioural questionnaires and cognitive testing, applying quantitative methods previously validated in populations with ID. We compared males with X-linked ID caused by mutations in three MAGUK genes (PAK3, DLG3, OPHN1; n = 9) to males with ID caused by mutations in other X chromosome genes (n = 17). Non-parametric and parametric analyses were applied as appropriate to data. RESULTS: Groups did not differ in age, global cognitive impairment, adaptive function or epilepsy prevalence. However, individuals with MAGUK gene mutations demonstrated significantly higher psychopathology risks, comprising elevated total problem behaviours, prominent hyperactivity and elevated scores on an autism screening checklist. Despite these overt difficulties, individuals in the MAGUK group performed more accurately than expected for age and intelligence quotient (IQ) on computerised tests of visual attention, convergent with mouse models of MAGUK loss-of-function. CONCLUSIONS: Our findings support a role for MAGUK genes in influencing cognitive parameters relevant to psychiatric risk. In addition to establishing clear patterns of impairment for this group, our findings highlight the importance of careful phenotyping after genetic diagnosis, showing that gene functional network disruptions can be associated with specific psychopathological risks and cognitive differences within the context of ID. En ligne : http://dx.doi.org/10.1186/s11689-015-9105-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities / E. M. DYKENS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.9 Titre : Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities Type de document : Texte imprimé et/ou numérique Auteurs : E. M. DYKENS, Auteur ; B. SHAH, Auteur ; B. DAVIS, Auteur ; C. BAKER, Auteur ; T. FIFE, Auteur ; J. FITZPATRICK, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Catatonia  Depression  Down syndrome  Intellectual disabilities  Psychosis Index. décimale : PER Périodiques Résumé : BACKGROUND: Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with intellectual disabilities. Yet adolescence and young adulthood are particularly vulnerable time periods, as they involve multiple life transitions in educational, medical, and other service systems. METHODS: This study compared the psychiatric diagnoses of 49 adolescent and young adult patients with Down syndrome to 70 patients with other intellectual disabilities (IDs). The groups were similar in age, gender, and level of intellectual impairment. The 119 participants, aged 13 to 29 years (M = 21) were evaluated in one of two specialized psychiatric clinics. RESULTS: In contrast to previous literature, those with Down syndrome versus other IDs had significantly higher rates of psychosis NOS or depression with psychotic features (43% versus 13%). Unlike the ID group, psychosis was predominantly seen in females with Down syndrome. Marked motoric slowing in performing routine daily activities or in expressive language was manifested in 17% of patients with Down syndrome. No group differences were found in anxiety or depressive disorders, and the ID group had significantly higher rates of bipolar and impulse control disorders. CONCLUSIONS: These preliminary observations warrant further studies on genetic, neurological, and psychosocial factors that place some young people with Down syndrome or other IDs at high risk for severe psychiatric illness. En ligne : http://dx.doi.org/10.1186/s11689-015-9101-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities [Texte imprimé et/ou numérique] / E. M. DYKENS, Auteur ; B. SHAH, Auteur ; B. DAVIS, Auteur ; C. BAKER, Auteur ; T. FIFE, Auteur ; J. FITZPATRICK, Auteur . - p.9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.9 Mots-clés : Catatonia  Depression  Down syndrome  Intellectual disabilities  Psychosis Index. décimale : PER Périodiques Résumé : BACKGROUND: Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with intellectual disabilities. Yet adolescence and young adulthood are particularly vulnerable time periods, as they involve multiple life transitions in educational, medical, and other service systems. METHODS: This study compared the psychiatric diagnoses of 49 adolescent and young adult patients with Down syndrome to 70 patients with other intellectual disabilities (IDs). The groups were similar in age, gender, and level of intellectual impairment. The 119 participants, aged 13 to 29 years (M = 21) were evaluated in one of two specialized psychiatric clinics. RESULTS: In contrast to previous literature, those with Down syndrome versus other IDs had significantly higher rates of psychosis NOS or depression with psychotic features (43% versus 13%). Unlike the ID group, psychosis was predominantly seen in females with Down syndrome. Marked motoric slowing in performing routine daily activities or in expressive language was manifested in 17% of patients with Down syndrome. No group differences were found in anxiety or depressive disorders, and the ID group had significantly higher rates of bipolar and impulse control disorders. CONCLUSIONS: These preliminary observations warrant further studies on genetic, neurological, and psychosocial factors that place some young people with Down syndrome or other IDs at high risk for severe psychiatric illness. En ligne : http://dx.doi.org/10.1186/s11689-015-9101-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD / C. R. O'CONAILL in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.10 Titre : Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD Type de document : Texte imprimé et/ou numérique Auteurs : C. R. O'CONAILL, Auteur ; K. L. MALISZA, Auteur ; J. L. BUSS, Auteur ; R. B. BOLSTER, Auteur ; C. CLANCY, Auteur ; P. D. DE GERVAI, Auteur ; A. E. CHUDLEY, Auteur ; S. LONGSTAFFE, Auteur Article en page(s) : p.10 Langues : Anglais (eng) Mots-clés : Alcohol-related neurodevelopmental disorder (ARND)  Attention  Attention-deficit/hyperactivity disorder (ADHD)  Diffusion tensor imaging (DTI)  Fetal alcohol spectrum disorder (FASD)  Functional magnetic resonance imaging (fMRI)  Gray matter  Inferior longitudinal fasciculus (ILF)  Tract-based spatial statistics (TBSS)  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Alcohol-related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD). Diagnosis of ARND is difficult because individuals do not demonstrate the characteristic facial features associated with fetal alcohol syndrome (FAS). While attentional problems in ARND are similar to those found in attention-deficit/hyperactivity disorder (ADHD), the underlying impairment in attention pathways may be different. METHODS: Functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) was conducted at 3 T. Sixty-three children aged 10 to 14 years diagnosed with ARND, ADHD, and typically developing (TD) controls performed a single-feature and a feature-conjunction visual search task. RESULTS: Dorsal and ventral attention pathways were activated during both attention tasks in all groups. Significantly greater activation was observed in ARND subjects during a single-feature search as compared to TD and ADHD groups, suggesting ARND subjects require greater neural recruitment to perform this simple task. ARND subjects appear unable to effectively use the very efficient automatic perceptual 'pop-out' mechanism employed by TD and ADHD groups during presentation of the disjunction array. By comparison, activation was lower in ARND compared to TD and ADHD subjects during the more difficult conjunction search task as compared to the single-feature search. Analysis of DTI data using tract-based spatial statistics (TBSS) showed areas of significantly lower fractional anisotropy (FA) and higher mean diffusivity (MD) in the right inferior longitudinal fasciculus (ILF) in ARND compared to TD subjects. Damage to the white matter of the ILF may compromise the ventral attention pathway and may require subjects to use the dorsal attention pathway, which is associated with effortful top-down processing, for tasks that should be automatic. Decreased functional activity in the right temporoparietal junction (TPJ) of ARND subjects may be due to a reduction in the white matter tract's ability to efficiently convey information critical to performance of the attention tasks. CONCLUSIONS: Limited activation patterns in ARND suggest problems in information processing along the ventral frontoparietal attention pathway. Poor integrity of the ILF, which connects the functional components of the ventral attention network, in ARND subjects may contribute to the attention deficits characteristic of the disorder. En ligne : http://dx.doi.org/10.1186/s11689-015-9106-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD [Texte imprimé et/ou numérique] / C. R. O'CONAILL, Auteur ; K. L. MALISZA, Auteur ; J. L. BUSS, Auteur ; R. B. BOLSTER, Auteur ; C. CLANCY, Auteur ; P. D. DE GERVAI, Auteur ; A. E. CHUDLEY, Auteur ; S. LONGSTAFFE, Auteur . - p.10. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.10 Mots-clés : Alcohol-related neurodevelopmental disorder (ARND)  Attention  Attention-deficit/hyperactivity disorder (ADHD)  Diffusion tensor imaging (DTI)  Fetal alcohol spectrum disorder (FASD)  Functional magnetic resonance imaging (fMRI)  Gray matter  Inferior longitudinal fasciculus (ILF)  Tract-based spatial statistics (TBSS)  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Alcohol-related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD). Diagnosis of ARND is difficult because individuals do not demonstrate the characteristic facial features associated with fetal alcohol syndrome (FAS). While attentional problems in ARND are similar to those found in attention-deficit/hyperactivity disorder (ADHD), the underlying impairment in attention pathways may be different. METHODS: Functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) was conducted at 3 T. Sixty-three children aged 10 to 14 years diagnosed with ARND, ADHD, and typically developing (TD) controls performed a single-feature and a feature-conjunction visual search task. RESULTS: Dorsal and ventral attention pathways were activated during both attention tasks in all groups. Significantly greater activation was observed in ARND subjects during a single-feature search as compared to TD and ADHD groups, suggesting ARND subjects require greater neural recruitment to perform this simple task. ARND subjects appear unable to effectively use the very efficient automatic perceptual 'pop-out' mechanism employed by TD and ADHD groups during presentation of the disjunction array. By comparison, activation was lower in ARND compared to TD and ADHD subjects during the more difficult conjunction search task as compared to the single-feature search. Analysis of DTI data using tract-based spatial statistics (TBSS) showed areas of significantly lower fractional anisotropy (FA) and higher mean diffusivity (MD) in the right inferior longitudinal fasciculus (ILF) in ARND compared to TD subjects. Damage to the white matter of the ILF may compromise the ventral attention pathway and may require subjects to use the dorsal attention pathway, which is associated with effortful top-down processing, for tasks that should be automatic. Decreased functional activity in the right temporoparietal junction (TPJ) of ARND subjects may be due to a reduction in the white matter tract's ability to efficiently convey information critical to performance of the attention tasks. CONCLUSIONS: Limited activation patterns in ARND suggest problems in information processing along the ventral frontoparietal attention pathway. Poor integrity of the ILF, which connects the functional components of the ventral attention network, in ARND subjects may contribute to the attention deficits characteristic of the disorder. En ligne : http://dx.doi.org/10.1186/s11689-015-9106-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

A national survey of Rett syndrome: behavioural characteristics / R. CIANFAGLIONE in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.11 Titre : A national survey of Rett syndrome: behavioural characteristics Type de document : Texte imprimé et/ou numérique Auteurs : R. CIANFAGLIONE, Auteur ; A. CLARKE, Auteur ; M. KERR, Auteur ; R. P. HASTINGS, Auteur ; C. OLIVER, Auteur ; J. MOSS, Auteur ; M. HEALD, Auteur ; D. FELCE, Auteur Article en page(s) : p.11 Langues : Anglais (eng) Mots-clés : Behavioural characteristics  Great Britain  Intellectual disabilities  Rett syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. RESULTS: Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. CONCLUSIONS: There is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation. En ligne : http://dx.doi.org/10.1186/s11689-015-9104-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] A national survey of Rett syndrome: behavioural characteristics [Texte imprimé et/ou numérique] / R. CIANFAGLIONE, Auteur ; A. CLARKE, Auteur ; M. KERR, Auteur ; R. P. HASTINGS, Auteur ; C. OLIVER, Auteur ; J. MOSS, Auteur ; M. HEALD, Auteur ; D. FELCE, Auteur . - p.11. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.11 Mots-clés : Behavioural characteristics  Great Britain  Intellectual disabilities  Rett syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. RESULTS: Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. CONCLUSIONS: There is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation. En ligne : http://dx.doi.org/10.1186/s11689-015-9104-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Neural mechanisms of negative reinforcement in children and adolescents with autism spectrum disorders / Cara R. DAMIANO in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.12 Titre : Neural mechanisms of negative reinforcement in children and adolescents with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Cara R. DAMIANO, Auteur ; D. C. COCKRELL, Auteur ; K. DUNLAP, Auteur ; E. K. HANNA, Auteur ; S. MILLER, Auteur ; Joshua BIZZELL, Auteur ; M. KOVAC, Auteur ; Lauren M. TURNER-BROWN, Auteur ; J. SIDERIS, Auteur ; J. KINARD, Auteur ; Gabriel S. DICHTER, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASD)  Negative reinforcement  Reward loss  Reward motivation  Reward processing  Social motivation Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largely on positive social reinforcement, while little is known about the processing of negative reinforcement in individuals with ASD. METHODS: The present study examined neural responses to social negative reinforcement (a face displaying negative affect) and non-social negative reinforcement (monetary loss) in children with ASD relative to typically developing children, using functional magnetic resonance imaging (fMRI). RESULTS: We found that children with ASD demonstrated hypoactivation of the right caudate nucleus while anticipating non-social negative reinforcement and hypoactivation of a network of frontostriatal regions (including the nucleus accumbens, caudate nucleus, and putamen) while anticipating social negative reinforcement. In addition, activation of the right caudate nucleus during non-social negative reinforcement was associated with individual differences in social motivation. CONCLUSIONS: These results suggest that atypical responding to negative reinforcement in children with ASD may contribute to social motivational deficits in this population. En ligne : http://dx.doi.org/10.1186/s11689-015-9107-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Neural mechanisms of negative reinforcement in children and adolescents with autism spectrum disorders [Texte imprimé et/ou numérique] / Cara R. DAMIANO, Auteur ; D. C. COCKRELL, Auteur ; K. DUNLAP, Auteur ; E. K. HANNA, Auteur ; S. MILLER, Auteur ; Joshua BIZZELL, Auteur ; M. KOVAC, Auteur ; Lauren M. TURNER-BROWN, Auteur ; J. SIDERIS, Auteur ; J. KINARD, Auteur ; Gabriel S. DICHTER, Auteur . - p.12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.12 Mots-clés : Autism spectrum disorders (ASD)  Negative reinforcement  Reward loss  Reward motivation  Reward processing  Social motivation Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largely on positive social reinforcement, while little is known about the processing of negative reinforcement in individuals with ASD. METHODS: The present study examined neural responses to social negative reinforcement (a face displaying negative affect) and non-social negative reinforcement (monetary loss) in children with ASD relative to typically developing children, using functional magnetic resonance imaging (fMRI). RESULTS: We found that children with ASD demonstrated hypoactivation of the right caudate nucleus while anticipating non-social negative reinforcement and hypoactivation of a network of frontostriatal regions (including the nucleus accumbens, caudate nucleus, and putamen) while anticipating social negative reinforcement. In addition, activation of the right caudate nucleus during non-social negative reinforcement was associated with individual differences in social motivation. CONCLUSIONS: These results suggest that atypical responding to negative reinforcement in children with ASD may contribute to social motivational deficits in this population. En ligne : http://dx.doi.org/10.1186/s11689-015-9107-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Erratum: Emerging topics in FXTAS / D. A. HALL in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.13 Titre : Erratum: Emerging topics in FXTAS Type de document : Texte imprimé et/ou numérique Auteurs : D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. A. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur Article en page(s) : p.13 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/1866-1955-6-31.]. En ligne : http://dx.doi.org/10.1186/s11689-015-9108-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Erratum: Emerging topics in FXTAS [Texte imprimé et/ou numérique] / D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. A. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur . - p.13. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.13 Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/1866-1955-6-31.]. En ligne : http://dx.doi.org/10.1186/s11689-015-9108-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Sexually dimorphic facial features vary according to level of autistic-like traits in the general population / S. Z. GILANI in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.14 Titre : Sexually dimorphic facial features vary according to level of autistic-like traits in the general population Type de document : Texte imprimé et/ou numérique Auteurs : S. Z. GILANI, Auteur ; D. W. TAN, Auteur ; S. N. RUSSELL-SMITH, Auteur ; M. T. MAYBERY, Auteur ; A. MIAN, Auteur ; P. R. EASTWOOD, Auteur ; F. SHAFAIT, Auteur ; M. GOONEWARDENE, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : p.14 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorder  Facial features  Femininity  Gender defiant disorder  Hypermasculinisation  Masculinity  Raine study Index. décimale : PER Périodiques Résumé : BACKGROUND: In a recent study, Bejerot et al. observed that several physical features (including faces) of individuals with an autism spectrum disorder (ASD) were more androgynous than those of their typically developed counterparts, suggesting that ASD may be understood as a 'gender defiant' disorder. These findings are difficult to reconcile with the hypermasculinisation account, which proposes that ASD may be an exaggerated form of cognitive and biological masculinity. The current study extended these data by first identifying six facial features that best distinguished males and females from the general population and then examining these features in typically developing groups selected for high and low levels of autistic-like traits. METHODS: In study 1, three-dimensional (3D) facial images were collected from 208 young adult males and females recruited from the general population. Twenty-three facial distances were measured from these images and a gender classification and scoring algorithm was employed to identify a set of six facial features that most effectively distinguished male from female faces. In study 2, measurements of these six features were compared for groups of young adults selected for high (n = 46) or low (n = 66) levels of autistic-like traits. RESULTS: For each sex, four of the six sexually dimorphic facial distances significantly differentiated participants with high levels of autistic-like traits from those with low trait levels. All four features were less masculinised for high-trait males compared to low-trait males. Three of four features were less feminised for high-trait females compared to low-trait females. One feature was, however, not consistent with the general pattern of findings and was more feminised among females who reported more autistic-like traits. Based on the four significantly different facial distances for each sex, discriminant function analysis correctly classified 89.7% of the males and 88.9% of the females into their respective high- and low-trait groups. CONCLUSIONS: The current data provide support for Bejerot et al.'s androgyny account since males and females with high levels of autistic-like traits generally showed less sex-typical facial features than individuals with low levels of autistic-like traits. En ligne : http://dx.doi.org/10.1186/s11689-015-9109-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Sexually dimorphic facial features vary according to level of autistic-like traits in the general population [Texte imprimé et/ou numérique] / S. Z. GILANI, Auteur ; D. W. TAN, Auteur ; S. N. RUSSELL-SMITH, Auteur ; M. T. MAYBERY, Auteur ; A. MIAN, Auteur ; P. R. EASTWOOD, Auteur ; F. SHAFAIT, Auteur ; M. GOONEWARDENE, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - p.14. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.14 Mots-clés : Autism  Autism spectrum disorder  Facial features  Femininity  Gender defiant disorder  Hypermasculinisation  Masculinity  Raine study Index. décimale : PER Périodiques Résumé : BACKGROUND: In a recent study, Bejerot et al. observed that several physical features (including faces) of individuals with an autism spectrum disorder (ASD) were more androgynous than those of their typically developed counterparts, suggesting that ASD may be understood as a 'gender defiant' disorder. These findings are difficult to reconcile with the hypermasculinisation account, which proposes that ASD may be an exaggerated form of cognitive and biological masculinity. The current study extended these data by first identifying six facial features that best distinguished males and females from the general population and then examining these features in typically developing groups selected for high and low levels of autistic-like traits. METHODS: In study 1, three-dimensional (3D) facial images were collected from 208 young adult males and females recruited from the general population. Twenty-three facial distances were measured from these images and a gender classification and scoring algorithm was employed to identify a set of six facial features that most effectively distinguished male from female faces. In study 2, measurements of these six features were compared for groups of young adults selected for high (n = 46) or low (n = 66) levels of autistic-like traits. RESULTS: For each sex, four of the six sexually dimorphic facial distances significantly differentiated participants with high levels of autistic-like traits from those with low trait levels. All four features were less masculinised for high-trait males compared to low-trait males. Three of four features were less feminised for high-trait females compared to low-trait females. One feature was, however, not consistent with the general pattern of findings and was more feminised among females who reported more autistic-like traits. Based on the four significantly different facial distances for each sex, discriminant function analysis correctly classified 89.7% of the males and 88.9% of the females into their respective high- and low-trait groups. CONCLUSIONS: The current data provide support for Bejerot et al.'s androgyny account since males and females with high levels of autistic-like traits generally showed less sex-typical facial features than individuals with low levels of autistic-like traits. En ligne : http://dx.doi.org/10.1186/s11689-015-9109-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Violence: heightened brain attentional network response is selectively muted in Down syndrome / Jeffrey S. ANDERSON in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.15 Titre : Violence: heightened brain attentional network response is selectively muted in Down syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jeffrey S. ANDERSON, Auteur ; S. M. TREIMAN, Auteur ; M. A. FERGUSON, Auteur ; J. A. NIELSEN, Auteur ; J. O. EDGIN, Auteur ; L. DAI, Auteur ; G. GERIG, Auteur ; J. R. KORENBERG, Auteur Article en page(s) : p.15 Langues : Anglais (eng) Mots-clés : Attention  Down syndrome  Violence  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. METHODS: We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. RESULTS: We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. CONCLUSIONS: These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated with Down syndrome can modulate the brain's response to violence and other complex emotive ideas. En ligne : http://dx.doi.org/10.1186/s11689-015-9112-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Violence: heightened brain attentional network response is selectively muted in Down syndrome [Texte imprimé et/ou numérique] / Jeffrey S. ANDERSON, Auteur ; S. M. TREIMAN, Auteur ; M. A. FERGUSON, Auteur ; J. A. NIELSEN, Auteur ; J. O. EDGIN, Auteur ; L. DAI, Auteur ; G. GERIG, Auteur ; J. R. KORENBERG, Auteur . - p.15. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.15 Mots-clés : Attention  Down syndrome  Violence  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. METHODS: We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. RESULTS: We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. CONCLUSIONS: These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated with Down syndrome can modulate the brain's response to violence and other complex emotive ideas. En ligne : http://dx.doi.org/10.1186/s11689-015-9112-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Erratum: Parental phonological memory contributes to prediction of outcome of late talkers from 20 months to 4 years: a longitudinal study of precursors of specific language impairment / Dorothy V. M. BISHOP in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.16 Titre : Erratum: Parental phonological memory contributes to prediction of outcome of late talkers from 20 months to 4 years: a longitudinal study of precursors of specific language impairment Type de document : Texte imprimé et/ou numérique Auteurs : Dorothy V. M. BISHOP, Auteur ; G. HOLT, Auteur ; E. LINE, Auteur ; D. MCDONALD, Auteur ; S. MCDONALD, Auteur ; H. WATT, Auteur Article en page(s) : p.16 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/1866-1955-4-3.]. En ligne : http://dx.doi.org/10.1186/s11689-015-9110-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Erratum: Parental phonological memory contributes to prediction of outcome of late talkers from 20 months to 4 years: a longitudinal study of precursors of specific language impairment [Texte imprimé et/ou numérique] / Dorothy V. M. BISHOP, Auteur ; G. HOLT, Auteur ; E. LINE, Auteur ; D. MCDONALD, Auteur ; S. MCDONALD, Auteur ; H. WATT, Auteur . - p.16. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.16 Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/1866-1955-4-3.]. En ligne : http://dx.doi.org/10.1186/s11689-015-9110-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study / E. S. JAMNADASS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.17 Titre : The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study Type de document : Texte imprimé et/ou numérique Auteurs : E. S. JAMNADASS, Auteur ; J. A. KEELAN, Auteur ; L. P. HOLLIER, Auteur ; M. HICKEY, Auteur ; M. T. MAYBERY, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : p.17 Langues : Anglais (eng) Mots-clés : Androgens  Autism-Spectrum Quotient  Autistic-like traits  Cord blood  Estrogens  Perinatal  Sex steroids Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits, a similar relationship has not been found for testosterone in umbilical cord blood. However, it may be the net biological activity of multiple androgens and estrogens that influences postnatal effects of prenatal sex steroids. Accordingly, composite levels of androgens (A) and estrogens (E) were investigated, along with their ratio, in relation to autistic-like traits in young adulthood. METHODS: Sex steroid data in umbilical cord blood were available from 860 individuals at delivery. Samples were analyzed for androgens (testosterone, androstenedione, and dehydroepiandrosterone) and estrogens (estrone, estradiol, estriol, and estetrol). Levels of bioavailable testosterone, estradiol, and estrone were measured and used to calculate A and E composites and the A to E ratio. Participants were approached in early adulthood to complete the autism-spectrum quotient (AQ) as a self-report measure of autistic-like traits, with 183 males (M = 20.10 years, SD = 0.65 years) and 189 females (M =19.92 years, SD = 0.68 years) providing data. RESULTS: Males exhibited significantly higher androgen composites and A to E composite ratios than females. Males also scored significantly higher on the details/patterns subscale of the AQ. Subsequent categorical and continuous analyses, which accounted for covariates, revealed no substantial relationships between the A/E composites or the A to E ratio and the AQ total or subscale scores. CONCLUSIONS: The current study found no link between the A/E composites or the A to E ratio in cord blood and autistic-like traits in the population as measured by the AQ. These outcomes do not exclude the possibility that these sex steroid variables may predict other neurodevelopmental traits in early development. En ligne : http://dx.doi.org/10.1186/s11689-015-9114-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study [Texte imprimé et/ou numérique] / E. S. JAMNADASS, Auteur ; J. A. KEELAN, Auteur ; L. P. HOLLIER, Auteur ; M. HICKEY, Auteur ; M. T. MAYBERY, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - p.17. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.17 Mots-clés : Androgens  Autism-Spectrum Quotient  Autistic-like traits  Cord blood  Estrogens  Perinatal  Sex steroids Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits, a similar relationship has not been found for testosterone in umbilical cord blood. However, it may be the net biological activity of multiple androgens and estrogens that influences postnatal effects of prenatal sex steroids. Accordingly, composite levels of androgens (A) and estrogens (E) were investigated, along with their ratio, in relation to autistic-like traits in young adulthood. METHODS: Sex steroid data in umbilical cord blood were available from 860 individuals at delivery. Samples were analyzed for androgens (testosterone, androstenedione, and dehydroepiandrosterone) and estrogens (estrone, estradiol, estriol, and estetrol). Levels of bioavailable testosterone, estradiol, and estrone were measured and used to calculate A and E composites and the A to E ratio. Participants were approached in early adulthood to complete the autism-spectrum quotient (AQ) as a self-report measure of autistic-like traits, with 183 males (M = 20.10 years, SD = 0.65 years) and 189 females (M =19.92 years, SD = 0.68 years) providing data. RESULTS: Males exhibited significantly higher androgen composites and A to E composite ratios than females. Males also scored significantly higher on the details/patterns subscale of the AQ. Subsequent categorical and continuous analyses, which accounted for covariates, revealed no substantial relationships between the A/E composites or the A to E ratio and the AQ total or subscale scores. CONCLUSIONS: The current study found no link between the A/E composites or the A to E ratio in cord blood and autistic-like traits in the population as measured by the AQ. These outcomes do not exclude the possibility that these sex steroid variables may predict other neurodevelopmental traits in early development. En ligne : http://dx.doi.org/10.1186/s11689-015-9114-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms / A. GUNA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.18 Titre : Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms Type de document : Texte imprimé et/ou numérique Auteurs : A. GUNA, Auteur ; N. J. BUTCHER, Auteur ; A. S. BASSETT, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : Animal models  Dgcr8  DiGeorge syndrome  Homolog  Homology  Prodh  Slc25a1  Tbx1  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. METHODS: We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. RESULTS: There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. CONCLUSIONS: Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes. En ligne : http://dx.doi.org/10.1186/s11689-015-9113-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms [Texte imprimé et/ou numérique] / A. GUNA, Auteur ; N. J. BUTCHER, Auteur ; A. S. BASSETT, Auteur . - p.18. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.18 Mots-clés : Animal models  Dgcr8  DiGeorge syndrome  Homolog  Homology  Prodh  Slc25a1  Tbx1  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. METHODS: We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. RESULTS: There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. CONCLUSIONS: Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes. En ligne : http://dx.doi.org/10.1186/s11689-015-9113-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Memory in language-impaired children with and without autism / A. P. HILL in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.19 Titre : Memory in language-impaired children with and without autism Type de document : Texte imprimé et/ou numérique Auteurs : A. P. HILL, Auteur ; Jan P. H. VAN SANTEN, Auteur ; K. GORMAN, Auteur ; B. H. LANGHORST, Auteur ; E. FOMBONNE, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Narrative  Nonword repetition  Processing speed  Specific language impairment  Verbal memory  Verbal working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: A subgroup of young children with autism spectrum disorders (ASD) have significant language impairments (phonology, grammar, vocabulary), although such impairments are not considered to be core symptoms of and are not unique to ASD. Children with specific language impairment (SLI) display similar impairments in language. Given evidence for phenotypic and possibly etiologic overlap between SLI and ASD, it has been suggested that language-impaired children with ASD (ASD + language impairment, ALI) may be characterized as having both ASD and SLI. However, the extent to which the language phenotypes in SLI and ALI can be viewed as similar or different depends in part upon the age of the individuals studied. The purpose of the current study is to examine differences in memory abilities, specifically those that are key "markers" of heritable SLI, among young school-age children with SLI, ALI, and ALN (ASD + language normal). METHODS: In this cross-sectional study, three groups of children between ages 5 and 8 years participated: SLI (n = 18), ALI (n = 22), and ALN (n = 20). A battery of cognitive, language, and ASD assessments was administered as well as a nonword repetition (NWR) test and measures of verbal memory, visual memory, and processing speed. RESULTS: NWR difficulties were more severe in SLI than in ALI, with the largest effect sizes in response to nonwords with the shortest syllable lengths. Among children with ASD, NWR difficulties were not associated with the presence of impairments in multiple ASD domains, as reported previously. Verbal memory difficulties were present in both SLI and ALI groups relative to children with ALN. Performance on measures related to verbal but not visual memory or processing speed were significantly associated with the relative degree of language impairment in children with ASD, supporting the role of verbal memory difficulties in language impairments among early school-age children with ASD. CONCLUSIONS: The primary difference between children with SLI and ALI was in NWR performance, particularly in repeating two- and three-syllable nonwords, suggesting that shared difficulties in early language learning found in previous studies do not necessarily reflect the same underlying mechanisms. En ligne : http://dx.doi.org/10.1186/s11689-015-9111-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Memory in language-impaired children with and without autism [Texte imprimé et/ou numérique] / A. P. HILL, Auteur ; Jan P. H. VAN SANTEN, Auteur ; K. GORMAN, Auteur ; B. H. LANGHORST, Auteur ; E. FOMBONNE, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.19 Mots-clés : Autism spectrum disorders  Narrative  Nonword repetition  Processing speed  Specific language impairment  Verbal memory  Verbal working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: A subgroup of young children with autism spectrum disorders (ASD) have significant language impairments (phonology, grammar, vocabulary), although such impairments are not considered to be core symptoms of and are not unique to ASD. Children with specific language impairment (SLI) display similar impairments in language. Given evidence for phenotypic and possibly etiologic overlap between SLI and ASD, it has been suggested that language-impaired children with ASD (ASD + language impairment, ALI) may be characterized as having both ASD and SLI. However, the extent to which the language phenotypes in SLI and ALI can be viewed as similar or different depends in part upon the age of the individuals studied. The purpose of the current study is to examine differences in memory abilities, specifically those that are key "markers" of heritable SLI, among young school-age children with SLI, ALI, and ALN (ASD + language normal). METHODS: In this cross-sectional study, three groups of children between ages 5 and 8 years participated: SLI (n = 18), ALI (n = 22), and ALN (n = 20). A battery of cognitive, language, and ASD assessments was administered as well as a nonword repetition (NWR) test and measures of verbal memory, visual memory, and processing speed. RESULTS: NWR difficulties were more severe in SLI than in ALI, with the largest effect sizes in response to nonwords with the shortest syllable lengths. Among children with ASD, NWR difficulties were not associated with the presence of impairments in multiple ASD domains, as reported previously. Verbal memory difficulties were present in both SLI and ALI groups relative to children with ALN. Performance on measures related to verbal but not visual memory or processing speed were significantly associated with the relative degree of language impairment in children with ASD, supporting the role of verbal memory difficulties in language impairments among early school-age children with ASD. CONCLUSIONS: The primary difference between children with SLI and ALI was in NWR performance, particularly in repeating two- and three-syllable nonwords, suggesting that shared difficulties in early language learning found in previous studies do not necessarily reflect the same underlying mechanisms. En ligne : http://dx.doi.org/10.1186/s11689-015-9111-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

A 13-year follow-up of Finnish patients with Salla disease / L. E. PAAVOLA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.20 Titre : A 13-year follow-up of Finnish patients with Salla disease Type de document : Texte imprimé et/ou numérique Auteurs : L. E. PAAVOLA, Auteur ; A. M. REMES, Auteur ; M. J. HARILA, Auteur ; T. T. VARHO, Auteur ; T. T. KORHONEN, Auteur ; K. MAJAMAA, Auteur Article en page(s) : p.20 Langues : Anglais (eng) Mots-clés : Dysmyelination  Follow-up study  Free sialic acid storage  Neurocognitive development  Rare diseases Index. décimale : PER Périodiques Résumé : BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. METHODS: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination. RESULTS: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. CONCLUSIONS: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development. En ligne : http://dx.doi.org/10.1186/s11689-015-9116-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] A 13-year follow-up of Finnish patients with Salla disease [Texte imprimé et/ou numérique] / L. E. PAAVOLA, Auteur ; A. M. REMES, Auteur ; M. J. HARILA, Auteur ; T. T. VARHO, Auteur ; T. T. KORHONEN, Auteur ; K. MAJAMAA, Auteur . - p.20. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.20 Mots-clés : Dysmyelination  Follow-up study  Free sialic acid storage  Neurocognitive development  Rare diseases Index. décimale : PER Périodiques Résumé : BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. METHODS: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination. RESULTS: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. CONCLUSIONS: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development. En ligne : http://dx.doi.org/10.1186/s11689-015-9116-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Altered modulation of gamma oscillation frequency by speed of visual motion in children with autism spectrum disorders / T. A. STROGANOVA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.21 Titre : Altered modulation of gamma oscillation frequency by speed of visual motion in children with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : T. A. STROGANOVA, Auteur ; A. V. BUTORINA, Auteur ; O. V. SYSOEVA, Auteur ; Andrey O. PROKOFYEV, Auteur ; A. Y. NIKOLAEVA, Auteur ; M. M. TSETLIN, Auteur ; Elena V. OREKHOVA, Auteur Article en page(s) : p.21 Langues : Anglais (eng) Mots-clés : Asd  Oblique line orientation threshold  Stimulus velocity  Visual gamma oscillation frequency Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent studies link autism spectrum disorders (ASD) with an altered balance between excitation and inhibition (E/I balance) in cortical networks. The brain oscillations in high gamma-band (50-120 Hz) are sensitive to the E/I balance and may appear useful biomarkers of certain ASD subtypes. The frequency of gamma oscillations is mediated by level of excitation of the fast-spiking inhibitory basket cells recruited by increasing strength of excitatory input. Therefore, the experimental manipulations affecting gamma frequency may throw light on inhibitory networks dysfunction in ASD. METHODS: Here, we used magnetoencephalography (MEG) to investigate modulation of visual gamma oscillation frequency by speed of drifting annular gratings (1.2, 3.6, 6.0 degrees /s) in 21 boys with ASD and 26 typically developing boys aged 7-15 years. Multitaper method was used for analysis of spectra of gamma power change upon stimulus presentation and permutation test was applied for statistical comparisons. We also assessed in our participants visual orientation discrimination thresholds, which are thought to depend on excitability of inhibitory networks in the visual cortex. RESULTS: Although frequency of the oscillatory gamma response increased with increasing velocity of visual motion in both groups of participants, the velocity effect was reduced in a substantial proportion of children with ASD. The range of velocity-related gamma frequency modulation correlated inversely with the ability to discriminate oblique line orientation in the ASD group, while no such correlation has been observed in the group of typically developing participants. CONCLUSIONS: Our findings suggest that abnormal velocity-related gamma frequency modulation in ASD may constitute a potential biomarker for reduced excitability of fast-spiking inhibitory neurons in a subset of children with ASD. En ligne : http://dx.doi.org/10.1186/s11689-015-9121-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Altered modulation of gamma oscillation frequency by speed of visual motion in children with autism spectrum disorders [Texte imprimé et/ou numérique] / T. A. STROGANOVA, Auteur ; A. V. BUTORINA, Auteur ; O. V. SYSOEVA, Auteur ; Andrey O. PROKOFYEV, Auteur ; A. Y. NIKOLAEVA, Auteur ; M. M. TSETLIN, Auteur ; Elena V. OREKHOVA, Auteur . - p.21. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.21 Mots-clés : Asd  Oblique line orientation threshold  Stimulus velocity  Visual gamma oscillation frequency Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent studies link autism spectrum disorders (ASD) with an altered balance between excitation and inhibition (E/I balance) in cortical networks. The brain oscillations in high gamma-band (50-120 Hz) are sensitive to the E/I balance and may appear useful biomarkers of certain ASD subtypes. The frequency of gamma oscillations is mediated by level of excitation of the fast-spiking inhibitory basket cells recruited by increasing strength of excitatory input. Therefore, the experimental manipulations affecting gamma frequency may throw light on inhibitory networks dysfunction in ASD. METHODS: Here, we used magnetoencephalography (MEG) to investigate modulation of visual gamma oscillation frequency by speed of drifting annular gratings (1.2, 3.6, 6.0 degrees /s) in 21 boys with ASD and 26 typically developing boys aged 7-15 years. Multitaper method was used for analysis of spectra of gamma power change upon stimulus presentation and permutation test was applied for statistical comparisons. We also assessed in our participants visual orientation discrimination thresholds, which are thought to depend on excitability of inhibitory networks in the visual cortex. RESULTS: Although frequency of the oscillatory gamma response increased with increasing velocity of visual motion in both groups of participants, the velocity effect was reduced in a substantial proportion of children with ASD. The range of velocity-related gamma frequency modulation correlated inversely with the ability to discriminate oblique line orientation in the ASD group, while no such correlation has been observed in the group of typically developing participants. CONCLUSIONS: Our findings suggest that abnormal velocity-related gamma frequency modulation in ASD may constitute a potential biomarker for reduced excitability of fast-spiking inhibitory neurons in a subset of children with ASD. En ligne : http://dx.doi.org/10.1186/s11689-015-9121-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome / Hayley CRAWFORD in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.22 Titre : Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; J. P. MCCLEERY, Auteur ; George M. ANDERSON, Auteur ; C. OLIVER, Auteur Article en page(s) : p.22 Langues : Anglais (eng) Mots-clés : Cornelia de Lange syndrome  Emotion preference  Eye gaze  Eye-tracking  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour. METHODS: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. RESULTS: Results indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions. CONCLUSIONS: These results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated. En ligne : http://dx.doi.org/10.1186/s11689-015-9119-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome [Texte imprimé et/ou numérique] / Hayley CRAWFORD, Auteur ; J. MOSS, Auteur ; J. P. MCCLEERY, Auteur ; George M. ANDERSON, Auteur ; C. OLIVER, Auteur . - p.22. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.22 Mots-clés : Cornelia de Lange syndrome  Emotion preference  Eye gaze  Eye-tracking  Rubinstein-Taybi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour. METHODS: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. RESULTS: Results indicate that the amount of time spent looking at the eye and mouth regions of faces was similar in 15 individuals with CdLS and 17 individuals with RTS. Both participant groups also showed a similar pattern of spontaneous visual preference for emotions. CONCLUSIONS: These results provide insight into two rare, genetically defined neurodevelopmental disorders that have been reported to exhibit contrasting socio-behavioural characteristics and suggest that differences in social behaviour may not be sufficient to predict attention to the eye region of faces. These results also suggest that differences in the social behaviours of these two groups may be cognitively mediated rather than subcortically mediated. En ligne : http://dx.doi.org/10.1186/s11689-015-9119-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome / M. C. PADULA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.23 Titre : Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. C. PADULA, Auteur ; M. SCHAER, Auteur ; E. SCARIATI, Auteur ; M. SCHNEIDER, Auteur ; D. VAN DE VILLE, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur Article en page(s) : p.23 Langues : Anglais (eng) Mots-clés : Dti  Maturation  Positive symptoms  Resting-state fMRI  Schizophrenia  Tractography Index. décimale : PER Périodiques Résumé : BACKGROUND: The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fMRI) findings also reported disconnectivity within the default mode network (DMN). In this study, we explored the relationship between functional and structural DMN connectivity and their changes with age in patients with 22q11DS in comparison to control participants. Given previous evidence of an association between DMN disconnectivity and the manifestation of psychotic symptoms, we further investigated this relationship in our group of patients with 22q11DS. METHODS: T1-weighted, diffusion, and resting-state fMRI scans were acquired from 41 patients with 22q11DS and 43 control participants aged 6 to 28 years. A data-driven approach based on independent component analysis (ICA) was used to identify the DMN and to define regions of interest for the structural and functional connectivity analysis. Prodromal psychotic symptoms were assessed in adolescents and adults using the positive symptom scores of the Structured Interview of Prodromal Syndromes (SIPS). Connectivity measures were compared between groups and correlated with age. Repeating the between-group analysis in three different age bins further assessed the presence of age-related alterations in DMN connectivity. Structural and functional connectivity measures were then correlated with the SIPS scores. RESULTS: A simultaneous reduction of functional and structural connectivity between core medial nodes of the DMN was observed. Furthermore, structural connectivity measures significantly increased with age in the control group but not in patients with 22q11DS, suggesting the presence of an age-related alteration of the DMN structural connections. No correlations were found between the DMN disconnectivity and expression of prodromal symptoms in 22q11DS. CONCLUSIONS: These findings indicate the presence of functional and structural DMN disconnectivity in 22q11DS and that patients with 22q11DS fail to develop normal structural connections between medial DMN nodes. This suggests the presence of altered neurodevelopmental trajectories in 22q11DS. En ligne : http://dx.doi.org/10.1186/s11689-015-9120-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / M. C. PADULA, Auteur ; M. SCHAER, Auteur ; E. SCARIATI, Auteur ; M. SCHNEIDER, Auteur ; D. VAN DE VILLE, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur . - p.23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.23 Mots-clés : Dti  Maturation  Positive symptoms  Resting-state fMRI  Schizophrenia  Tractography Index. décimale : PER Périodiques Résumé : BACKGROUND: The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fMRI) findings also reported disconnectivity within the default mode network (DMN). In this study, we explored the relationship between functional and structural DMN connectivity and their changes with age in patients with 22q11DS in comparison to control participants. Given previous evidence of an association between DMN disconnectivity and the manifestation of psychotic symptoms, we further investigated this relationship in our group of patients with 22q11DS. METHODS: T1-weighted, diffusion, and resting-state fMRI scans were acquired from 41 patients with 22q11DS and 43 control participants aged 6 to 28 years. A data-driven approach based on independent component analysis (ICA) was used to identify the DMN and to define regions of interest for the structural and functional connectivity analysis. Prodromal psychotic symptoms were assessed in adolescents and adults using the positive symptom scores of the Structured Interview of Prodromal Syndromes (SIPS). Connectivity measures were compared between groups and correlated with age. Repeating the between-group analysis in three different age bins further assessed the presence of age-related alterations in DMN connectivity. Structural and functional connectivity measures were then correlated with the SIPS scores. RESULTS: A simultaneous reduction of functional and structural connectivity between core medial nodes of the DMN was observed. Furthermore, structural connectivity measures significantly increased with age in the control group but not in patients with 22q11DS, suggesting the presence of an age-related alteration of the DMN structural connections. No correlations were found between the DMN disconnectivity and expression of prodromal symptoms in 22q11DS. CONCLUSIONS: These findings indicate the presence of functional and structural DMN disconnectivity in 22q11DS and that patients with 22q11DS fail to develop normal structural connections between medial DMN nodes. This suggests the presence of altered neurodevelopmental trajectories in 22q11DS. En ligne : http://dx.doi.org/10.1186/s11689-015-9120-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life / A. ESTES in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.24 Titre : Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life Type de document : Texte imprimé et/ou numérique Auteurs : A. ESTES, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; H. GU, Auteur ; T. ST JOHN, Auteur ; S. PATERSON, Auteur ; J. T. ELISON, Auteur ; Heather C. HAZLETT, Auteur ; Kelly N. BOTTERON, Auteur ; Stephen R. DAGER, Auteur ; Robert T. SCHULTZ, Auteur ; P. KOSTOPOULOS, Auteur ; A. EVANS, Auteur ; G. DAWSON, Auteur ; J. ELIASON, Auteur ; S. ALVAREZ, Auteur ; J. PIVEN, Auteur Article en page(s) : p.24 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: To delineate the early progression of autism spectrum disorder (ASD) symptoms, this study investigated developmental characteristics of infants at high familial risk for ASD (HR), and infants at low risk (LR). METHODS: Participants included 210 HR and 98 LR infants across 4 sites with comparable behavioral data at age 6, 12, and 24 months assessed in the domains of cognitive development (Mullen Scales of Early Learning), adaptive skills (Vineland Adaptive Behavioral Scales), and early behavioral features of ASD (Autism Observation Scale for Infants). Participants evaluated according to the DSM-IV-TR criteria at 24 months and categorized as ASD-positive or ASD-negative were further stratified by empirically derived cutoff scores using the Autism Diagnostic Observation Schedule yielding four groups: HR-ASD-High, HR-ASD-Moderate (HR-ASD-Mod), HR-ASD-Negative (HR-Neg), and LR-ASD-Negative (LR-Neg). RESULTS: The four groups demonstrated different developmental trajectories that became increasingly distinct from 6 to 24 months across all domains. At 6 months, the HR-ASD-High group demonstrated less advanced Gross Motor and Visual Reception skills compared with the LR-Neg group. By 12 months, the HR-ASD-High group demonstrated increased behavioral features of ASD and decreased cognitive and adaptive functioning compared to the HR-Neg and LR-Neg groups. By 24 months, both the HR-ASD-High and HR-ASD-Moderate groups demonstrated differences from the LR- and HR-Neg groups in all domains. CONCLUSIONS: These findings reveal atypical sensorimotor development at 6 months of age which is associated with ASD at 24 months in the most severely affected group of infants. Sensorimotor differences precede the unfolding of cognitive and adaptive deficits and behavioral features of autism across the 6- to 24-month interval. The less severely affected group demonstrates later symptom onset, in the second year of life, with initial differences in the social-communication domain. En ligne : http://dx.doi.org/10.1186/s11689-015-9117-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life [Texte imprimé et/ou numérique] / A. ESTES, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; H. GU, Auteur ; T. ST JOHN, Auteur ; S. PATERSON, Auteur ; J. T. ELISON, Auteur ; Heather C. HAZLETT, Auteur ; Kelly N. BOTTERON, Auteur ; Stephen R. DAGER, Auteur ; Robert T. SCHULTZ, Auteur ; P. KOSTOPOULOS, Auteur ; A. EVANS, Auteur ; G. DAWSON, Auteur ; J. ELIASON, Auteur ; S. ALVAREZ, Auteur ; J. PIVEN, Auteur . - p.24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.24 Index. décimale : PER Périodiques Résumé : BACKGROUND: To delineate the early progression of autism spectrum disorder (ASD) symptoms, this study investigated developmental characteristics of infants at high familial risk for ASD (HR), and infants at low risk (LR). METHODS: Participants included 210 HR and 98 LR infants across 4 sites with comparable behavioral data at age 6, 12, and 24 months assessed in the domains of cognitive development (Mullen Scales of Early Learning), adaptive skills (Vineland Adaptive Behavioral Scales), and early behavioral features of ASD (Autism Observation Scale for Infants). Participants evaluated according to the DSM-IV-TR criteria at 24 months and categorized as ASD-positive or ASD-negative were further stratified by empirically derived cutoff scores using the Autism Diagnostic Observation Schedule yielding four groups: HR-ASD-High, HR-ASD-Moderate (HR-ASD-Mod), HR-ASD-Negative (HR-Neg), and LR-ASD-Negative (LR-Neg). RESULTS: The four groups demonstrated different developmental trajectories that became increasingly distinct from 6 to 24 months across all domains. At 6 months, the HR-ASD-High group demonstrated less advanced Gross Motor and Visual Reception skills compared with the LR-Neg group. By 12 months, the HR-ASD-High group demonstrated increased behavioral features of ASD and decreased cognitive and adaptive functioning compared to the HR-Neg and LR-Neg groups. By 24 months, both the HR-ASD-High and HR-ASD-Moderate groups demonstrated differences from the LR- and HR-Neg groups in all domains. CONCLUSIONS: These findings reveal atypical sensorimotor development at 6 months of age which is associated with ASD at 24 months in the most severely affected group of infants. Sensorimotor differences precede the unfolding of cognitive and adaptive deficits and behavioral features of autism across the 6- to 24-month interval. The less severely affected group demonstrates later symptom onset, in the second year of life, with initial differences in the social-communication domain. En ligne : http://dx.doi.org/10.1186/s11689-015-9117-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications / C. M. HUDAC in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.25 Titre : Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications Type de document : Texte imprimé et/ou numérique Auteurs : C. M. HUDAC, Auteur ; A. KRESSE, Auteur ; Benjamin AARONSON, Auteur ; Trent D. DESCHAMPS, Auteur ; S. J. WEBB, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : 16p11.2  Autism spectrum disorder (ASD)  Copy number variation (CNV)  Electroencephalogram (EEG)  Molecular subtyping  Mu attenuation  Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little is known about the social brain phenotype of 16p11.2 CNV and how this phenotype is related to the social impairments associated with CNVs at this locus. The aim of this preliminary study was to use molecular subtyping to establish the social brain phenotype of individuals with 16p11.2 CNV and how these patterns relate to typical development and ASD. METHODS: We evaluated the social brain phenotype as expressed by mu attenuation in 48 children and adults characterized as duplication carriers (n = 12), deletion carriers (n = 12), individuals with idiopathic ASD (n = 8), and neurotypical controls (n = 16). Participants watched videos containing social and nonsocial motion during electroencephalogram (EEG) acquisition. RESULTS: Overall, only the typical group exhibited predicted patterns of mu modulation to social information (e.g., greater mu attenuation for social than nonsocial motion). Both 16p11.2 CNV groups exhibited more mu attenuation for nonsocial than social motion. The ASD group did not discriminate between conditions and demonstrated less mu attenuation compared to the typical and duplication carriers. Single-trial analysis indicated that mu attenuation decreased over time more rapidly for 16p11.2 CNV groups than the typical group. The duplication group did not diverge from typical patterns of mu attenuation until after initial exposure. CONCLUSIONS: These results indicate atypical but unique patterns of mu attenuation for deletion and duplication carriers, highlighting the need to continue characterizing the social brain phenotype associated with 16p11.2 CNVs. En ligne : http://dx.doi.org/10.1186/s11689-015-9118-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications [Texte imprimé et/ou numérique] / C. M. HUDAC, Auteur ; A. KRESSE, Auteur ; Benjamin AARONSON, Auteur ; Trent D. DESCHAMPS, Auteur ; S. J. WEBB, Auteur ; Raphael BERNIER, Auteur . - p.25. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.25 Mots-clés : 16p11.2  Autism spectrum disorder (ASD)  Copy number variation (CNV)  Electroencephalogram (EEG)  Molecular subtyping  Mu attenuation  Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little is known about the social brain phenotype of 16p11.2 CNV and how this phenotype is related to the social impairments associated with CNVs at this locus. The aim of this preliminary study was to use molecular subtyping to establish the social brain phenotype of individuals with 16p11.2 CNV and how these patterns relate to typical development and ASD. METHODS: We evaluated the social brain phenotype as expressed by mu attenuation in 48 children and adults characterized as duplication carriers (n = 12), deletion carriers (n = 12), individuals with idiopathic ASD (n = 8), and neurotypical controls (n = 16). Participants watched videos containing social and nonsocial motion during electroencephalogram (EEG) acquisition. RESULTS: Overall, only the typical group exhibited predicted patterns of mu modulation to social information (e.g., greater mu attenuation for social than nonsocial motion). Both 16p11.2 CNV groups exhibited more mu attenuation for nonsocial than social motion. The ASD group did not discriminate between conditions and demonstrated less mu attenuation compared to the typical and duplication carriers. Single-trial analysis indicated that mu attenuation decreased over time more rapidly for 16p11.2 CNV groups than the typical group. The duplication group did not diverge from typical patterns of mu attenuation until after initial exposure. CONCLUSIONS: These results indicate atypical but unique patterns of mu attenuation for deletion and duplication carriers, highlighting the need to continue characterizing the social brain phenotype associated with 16p11.2 CNVs. En ligne : http://dx.doi.org/10.1186/s11689-015-9118-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders / J. HU in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.26 Titre : CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : J. HU, Auteur ; J. LIAO, Auteur ; M. SATHANOORI, Auteur ; S. KOCHMAR, Auteur ; J. SEBASTIAN, Auteur ; S. A. YATSENKO, Auteur ; U. SURTI, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : 3p26.3 CNV  Array CGH  Cntn6  CNTNs  Microdeletion  Microduplication  Neurodevelopmental disorders  Neuropsychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been reported in only a handful of patients with copy number variations involving CNTNs. METHODS: From January 2009 to January 2013, 3724 patients ascertained through the University of Pittsburgh Medical Center were referred to our laboratory for clinical array comparative genomic hybridization testing. We screened this cohort of patients to identify individuals with the 3p26.3 copy number variations involving the CNTN6 gene, and then retrospectively reviewed the clinical information and family history of these patients to determine the association between the 3p26.3 copy number variations and neurodevelopmental disorders. RESULTS: Fourteen of the 3724 patients had 3p26.3 copy number variations involving the CNTN6 gene. Thirteen of the 14 patients with these CNTN6 copy number variations presented with various neurodevelopmental disorders including developmental delay, autistic spectrum disorders, seizures and attention deficit hyperactivity disorder. Family history was available for 13 of the 14 patients. Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including attention deficit hyperactivity disorder, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder. CONCLUSIONS: Our findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders. En ligne : http://dx.doi.org/10.1186/s11689-015-9122-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders [Texte imprimé et/ou numérique] / J. HU, Auteur ; J. LIAO, Auteur ; M. SATHANOORI, Auteur ; S. KOCHMAR, Auteur ; J. SEBASTIAN, Auteur ; S. A. YATSENKO, Auteur ; U. SURTI, Auteur . - p.26. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.26 Mots-clés : 3p26.3 CNV  Array CGH  Cntn6  CNTNs  Microdeletion  Microduplication  Neurodevelopmental disorders  Neuropsychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been reported in only a handful of patients with copy number variations involving CNTNs. METHODS: From January 2009 to January 2013, 3724 patients ascertained through the University of Pittsburgh Medical Center were referred to our laboratory for clinical array comparative genomic hybridization testing. We screened this cohort of patients to identify individuals with the 3p26.3 copy number variations involving the CNTN6 gene, and then retrospectively reviewed the clinical information and family history of these patients to determine the association between the 3p26.3 copy number variations and neurodevelopmental disorders. RESULTS: Fourteen of the 3724 patients had 3p26.3 copy number variations involving the CNTN6 gene. Thirteen of the 14 patients with these CNTN6 copy number variations presented with various neurodevelopmental disorders including developmental delay, autistic spectrum disorders, seizures and attention deficit hyperactivity disorder. Family history was available for 13 of the 14 patients. Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including attention deficit hyperactivity disorder, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder. CONCLUSIONS: Our findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders. En ligne : http://dx.doi.org/10.1186/s11689-015-9122-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Speech motor planning and execution deficits in early childhood stuttering / B. WALSH in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.27 Titre : Speech motor planning and execution deficits in early childhood stuttering Type de document : Texte imprimé et/ou numérique Auteurs : B. WALSH, Auteur ; K. M. METTEL, Auteur ; A. SMITH, Auteur Article en page(s) : p.27 Langues : Anglais (eng) Mots-clés : Preschool children  Sex differences  Speech kinematics  Speech motor control  Speech production  Stuttering Index. décimale : PER Périodiques Résumé : BACKGROUND: Five to eight percent of preschool children develop stuttering, a speech disorder with clearly observable, hallmark symptoms: sound repetitions, prolongations, and blocks. While the speech motor processes underlying stuttering have been widely documented in adults, few studies to date have assessed the speech motor dynamics of stuttering near its onset. We assessed fundamental characteristics of speech movements in preschool children who stutter and their fluent peers to determine if atypical speech motor characteristics described for adults are early features of the disorder or arise later in the development of chronic stuttering. METHODS: Orofacial movement data were recorded from 58 children who stutter and 43 children who do not stutter aged 4;0 to 5;11 (years; months) in a sentence production task. For single speech movements and multiple speech movement sequences, we computed displacement amplitude, velocity, and duration. For the phrase level movement sequence, we computed an index of articulation coordination consistency for repeated productions of the sentence. RESULTS: Boys who stutter, but not girls, produced speech with reduced amplitudes and velocities of articulatory movement. All children produced speech with similar durations. Boys, particularly the boys who stuttered, had more variable patterns of articulatory coordination compared to girls. CONCLUSIONS: This study is the first to demonstrate sex-specific differences in speech motor control processes between preschool boys and girls who are stuttering. The sex-specific lag in speech motor development in many boys who stutter likely has significant implications for the dramatically different recovery rates between male and female preschoolers who stutter. Further, our findings document that atypical speech motor development is an early feature of stuttering. En ligne : http://dx.doi.org/10.1186/s11689-015-9123-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Speech motor planning and execution deficits in early childhood stuttering [Texte imprimé et/ou numérique] / B. WALSH, Auteur ; K. M. METTEL, Auteur ; A. SMITH, Auteur . - p.27. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.27 Mots-clés : Preschool children  Sex differences  Speech kinematics  Speech motor control  Speech production  Stuttering Index. décimale : PER Périodiques Résumé : BACKGROUND: Five to eight percent of preschool children develop stuttering, a speech disorder with clearly observable, hallmark symptoms: sound repetitions, prolongations, and blocks. While the speech motor processes underlying stuttering have been widely documented in adults, few studies to date have assessed the speech motor dynamics of stuttering near its onset. We assessed fundamental characteristics of speech movements in preschool children who stutter and their fluent peers to determine if atypical speech motor characteristics described for adults are early features of the disorder or arise later in the development of chronic stuttering. METHODS: Orofacial movement data were recorded from 58 children who stutter and 43 children who do not stutter aged 4;0 to 5;11 (years; months) in a sentence production task. For single speech movements and multiple speech movement sequences, we computed displacement amplitude, velocity, and duration. For the phrase level movement sequence, we computed an index of articulation coordination consistency for repeated productions of the sentence. RESULTS: Boys who stutter, but not girls, produced speech with reduced amplitudes and velocities of articulatory movement. All children produced speech with similar durations. Boys, particularly the boys who stuttered, had more variable patterns of articulatory coordination compared to girls. CONCLUSIONS: This study is the first to demonstrate sex-specific differences in speech motor control processes between preschool boys and girls who are stuttering. The sex-specific lag in speech motor development in many boys who stutter likely has significant implications for the dramatically different recovery rates between male and female preschoolers who stutter. Further, our findings document that atypical speech motor development is an early feature of stuttering. En ligne : http://dx.doi.org/10.1186/s11689-015-9123-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Neural systems mediating processing of sound units of language distinguish recovery versus persistence in stuttering / R. MOHAN in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.28 Titre : Neural systems mediating processing of sound units of language distinguish recovery versus persistence in stuttering Type de document : Texte imprimé et/ou numérique Auteurs : R. MOHAN, Auteur ; C. WEBER, Auteur Article en page(s) : p.28 Langues : Anglais (eng) Mots-clés : Lateralization  N400  Phonological processing  Rhyme effect  Stuttering persistence Index. décimale : PER Périodiques Résumé : BACKGROUND: Developmental stuttering is a multi-factorial disorder. Measures of neural activity while children processed the phonological (language sound unit) properties of words have revealed neurodevelopmental differences between fluent children and those who stutter. However, there is limited evidence to show whether the neural bases of phonological processing can be used to identify stuttering recovery status. As an initial step, we aimed to determine if differences in neural activity during phonological processing could aid in distinguishing children who had recovered from stuttering and those whose stuttering persisted. METHODS: We examined neural activity mediating phonological processing in forty-three 7-8 year old children. Groups included children who had recovered from stuttering (CWS-Rec), those whose stuttering persisted (CWS-Per), and children who did not stutter (CWNS). All children demonstrated normal non-verbal intelligence and language skills. Electroencephalograms were recorded as the children listened to pairs of pseudo-words (primes-targets) that either rhymed or did not. Behavioral rhyme judgments along with peak latency and mean amplitude of the N400s elicited by prime and target stimuli were examined. RESULTS: All the groups were very accurate in their rhyme judgments and displayed a typical ERP rhyme effect, characterized by increased N400 amplitudes over central parietal sites for nonrhyming targets compared to rhyming targets. However, over anterior electrode sites, an earlier onset of the N400 for rhyming compared to non-rhyming targets, indexing phonological segmentation and rehearsal, was observed in the CWNS and CWS-Rec groups. This effect occurred bilaterally for the CWNS, was greater over the right hemisphere in the CWS-Rec, and was absent in the CWS-Per. CONCLUSIONS: These results are the first to show that differences in ERPs reflecting phonological processing are marked by atypical lateralization in childhood even after stuttering recovery and more pronounced atypical neural patterns for the children whose stuttering persisted. Despite comparable language and phonological skills as revealed by standardized tests, the neural activity mediating phonological segmentation and rehearsal differentiated 7-8 year old children whose stuttering persisted from those who had recovered from stuttering and typically developing peers. En ligne : http://dx.doi.org/10.1186/s11689-015-9124-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Neural systems mediating processing of sound units of language distinguish recovery versus persistence in stuttering [Texte imprimé et/ou numérique] / R. MOHAN, Auteur ; C. WEBER, Auteur . - p.28. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.28 Mots-clés : Lateralization  N400  Phonological processing  Rhyme effect  Stuttering persistence Index. décimale : PER Périodiques Résumé : BACKGROUND: Developmental stuttering is a multi-factorial disorder. Measures of neural activity while children processed the phonological (language sound unit) properties of words have revealed neurodevelopmental differences between fluent children and those who stutter. However, there is limited evidence to show whether the neural bases of phonological processing can be used to identify stuttering recovery status. As an initial step, we aimed to determine if differences in neural activity during phonological processing could aid in distinguishing children who had recovered from stuttering and those whose stuttering persisted. METHODS: We examined neural activity mediating phonological processing in forty-three 7-8 year old children. Groups included children who had recovered from stuttering (CWS-Rec), those whose stuttering persisted (CWS-Per), and children who did not stutter (CWNS). All children demonstrated normal non-verbal intelligence and language skills. Electroencephalograms were recorded as the children listened to pairs of pseudo-words (primes-targets) that either rhymed or did not. Behavioral rhyme judgments along with peak latency and mean amplitude of the N400s elicited by prime and target stimuli were examined. RESULTS: All the groups were very accurate in their rhyme judgments and displayed a typical ERP rhyme effect, characterized by increased N400 amplitudes over central parietal sites for nonrhyming targets compared to rhyming targets. However, over anterior electrode sites, an earlier onset of the N400 for rhyming compared to non-rhyming targets, indexing phonological segmentation and rehearsal, was observed in the CWNS and CWS-Rec groups. This effect occurred bilaterally for the CWNS, was greater over the right hemisphere in the CWS-Rec, and was absent in the CWS-Per. CONCLUSIONS: These results are the first to show that differences in ERPs reflecting phonological processing are marked by atypical lateralization in childhood even after stuttering recovery and more pronounced atypical neural patterns for the children whose stuttering persisted. Despite comparable language and phonological skills as revealed by standardized tests, the neural activity mediating phonological segmentation and rehearsal differentiated 7-8 year old children whose stuttering persisted from those who had recovered from stuttering and typically developing peers. En ligne : http://dx.doi.org/10.1186/s11689-015-9124-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

High rates of parkinsonism in adults with autism / S. STARKSTEIN in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.29 Titre : High rates of parkinsonism in adults with autism Type de document : Texte imprimé et/ou numérique Auteurs : S. STARKSTEIN, Auteur ; S. GELLAR, Auteur ; M. PARLIER, Auteur ; L. PAYNE, Auteur ; J. PIVEN, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : adults  autism  movement disorders  parkinsonism  parkinson's disease Index. décimale : PER Périodiques Résumé : BACKGROUND: While it is now recognized that autism spectrum disorder (ASD) is typically a life-long condition, there exist only a handful of systematic studies on middle-aged and older adults with this condition. METHODS: We first performed a structured examination of parkinsonian motor signs in a hypothesis-generating, pilot study (study I) of 19 adults with ASD over 49 years of age. Observing high rates of parkinsonism in those off atypical neuroleptics (2/12, 17 %) in comparison to published population rates for Parkinson's disease and parkinsonism, we examined a second sample of 37 adults with ASD, over 39 years of age, using a structured neurological assessment for parkinsonism. RESULTS: Twelve of the 37 subjects (32 %) met the diagnostic criteria for parkinsonism; however, of these, 29 subjects were on atypical neuroleptics, complicating interpretation of the findings. Two of eight (25 %) subjects not taking atypical neuroleptic medications met the criteria for parkinsonism. Combining subjects who were not currently taking atypical neuroleptic medications, across both studies, we conservatively classified 4/20 (20 %) with parkinsonism. CONCLUSIONS: We find a high frequency of parkinsonism among ASD individuals older than 39 years. If high rates of parkinsonism and potentially Parkinson's disease are confirmed in subsequent studies of ASD, this observation has important implications for understanding the neurobiology of autism and treatment of manifestations in older adults. Given the prevalence of autism in school-age children, the recognition of its life-long natural history, and the recognition of the aging of western societies, these findings also support the importance of further systematic study of other aspects of older adults with autism. En ligne : http://dx.doi.org/10.1186/s11689-015-9125-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] High rates of parkinsonism in adults with autism [Texte imprimé et/ou numérique] / S. STARKSTEIN, Auteur ; S. GELLAR, Auteur ; M. PARLIER, Auteur ; L. PAYNE, Auteur ; J. PIVEN, Auteur . - p.29. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.29 Mots-clés : adults  autism  movement disorders  parkinsonism  parkinson's disease Index. décimale : PER Périodiques Résumé : BACKGROUND: While it is now recognized that autism spectrum disorder (ASD) is typically a life-long condition, there exist only a handful of systematic studies on middle-aged and older adults with this condition. METHODS: We first performed a structured examination of parkinsonian motor signs in a hypothesis-generating, pilot study (study I) of 19 adults with ASD over 49 years of age. Observing high rates of parkinsonism in those off atypical neuroleptics (2/12, 17 %) in comparison to published population rates for Parkinson's disease and parkinsonism, we examined a second sample of 37 adults with ASD, over 39 years of age, using a structured neurological assessment for parkinsonism. RESULTS: Twelve of the 37 subjects (32 %) met the diagnostic criteria for parkinsonism; however, of these, 29 subjects were on atypical neuroleptics, complicating interpretation of the findings. Two of eight (25 %) subjects not taking atypical neuroleptic medications met the criteria for parkinsonism. Combining subjects who were not currently taking atypical neuroleptic medications, across both studies, we conservatively classified 4/20 (20 %) with parkinsonism. CONCLUSIONS: We find a high frequency of parkinsonism among ASD individuals older than 39 years. If high rates of parkinsonism and potentially Parkinson's disease are confirmed in subsequent studies of ASD, this observation has important implications for understanding the neurobiology of autism and treatment of manifestations in older adults. Given the prevalence of autism in school-age children, the recognition of its life-long natural history, and the recognition of the aging of western societies, these findings also support the importance of further systematic study of other aspects of older adults with autism. En ligne : http://dx.doi.org/10.1186/s11689-015-9125-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales / K. V. BARNES in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.30 Titre : Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales Type de document : Texte imprimé et/ou numérique Auteurs : K. V. BARNES, Auteur ; F. R. COUGHLIN, Auteur ; H. M. O'LEARY, Auteur ; N. BRUCK, Auteur ; G. A. BAZIN, Auteur ; E. B. BEINECKE, Auteur ; A. C. WALCO, Auteur ; N. G. CANTWELL, Auteur ; W. E. KAUFMANN, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Mots-clés : Anxiety  Intellectual disabilities  Problematic behavior  Rett syndrome  Social avoidance Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported. METHODS: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT. RESULTS: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life. CONCLUSIONS: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research applications. En ligne : http://dx.doi.org/10.1186/s11689-015-9127-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales [Texte imprimé et/ou numérique] / K. V. BARNES, Auteur ; F. R. COUGHLIN, Auteur ; H. M. O'LEARY, Auteur ; N. BRUCK, Auteur ; G. A. BAZIN, Auteur ; E. B. BEINECKE, Auteur ; A. C. WALCO, Auteur ; N. G. CANTWELL, Auteur ; W. E. KAUFMANN, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.30 Mots-clés : Anxiety  Intellectual disabilities  Problematic behavior  Rett syndrome  Social avoidance Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported. METHODS: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT. RESULTS: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life. CONCLUSIONS: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research applications. En ligne : http://dx.doi.org/10.1186/s11689-015-9127-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome) / R. A. MUMFORD in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.31 Titre : Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome) Type de document : Texte imprimé et/ou numérique Auteurs : R. A. MUMFORD, Auteur ; L. V. MAHON, Auteur ; S. JONES, Auteur ; B. BIGGER, Auteur ; M. CANAL, Auteur ; D. J. HARE, Auteur Article en page(s) : p.31 Langues : Anglais (eng) Mots-clés : Actigraphy  Circadian rhythms  Mucopolysaccharidosis type III  Sanfilippo  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep problems within the MPS III population. METHODS: Actigraphic data were recorded in eight children with MPS III over 7-10 days and compared to age-matched typically developing controls. Parameters of circadian rhythmicity and activity levels across a 24-h period were analysed. RESULTS: Statistically and clinically significant differences between the two groups were noted. Analysis indicated that children with MPS III showed significantly increased fragmentation of circadian rhythm and reduced stability with external cues (zeitgebers), compared to controls. Average times of activity onset and offset were indicative of a phase delayed sleep-wake cycle for some children in the MPS III group. Children with MPS III had significantly higher activity levels during the early morning hours (midnight-6 am) compared to controls. CONCLUSIONS: Results are consistent with previous research into MPS III and suggest that there is an impairment in circadian rhythm functioning in children with this condition. Implications for clinical practice and the management of sleep difficulties are discussed. En ligne : http://dx.doi.org/10.1186/s11689-015-9126-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome) [Texte imprimé et/ou numérique] / R. A. MUMFORD, Auteur ; L. V. MAHON, Auteur ; S. JONES, Auteur ; B. BIGGER, Auteur ; M. CANAL, Auteur ; D. J. HARE, Auteur . - p.31. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.31 Mots-clés : Actigraphy  Circadian rhythms  Mucopolysaccharidosis type III  Sanfilippo  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep problems within the MPS III population. METHODS: Actigraphic data were recorded in eight children with MPS III over 7-10 days and compared to age-matched typically developing controls. Parameters of circadian rhythmicity and activity levels across a 24-h period were analysed. RESULTS: Statistically and clinically significant differences between the two groups were noted. Analysis indicated that children with MPS III showed significantly increased fragmentation of circadian rhythm and reduced stability with external cues (zeitgebers), compared to controls. Average times of activity onset and offset were indicative of a phase delayed sleep-wake cycle for some children in the MPS III group. Children with MPS III had significantly higher activity levels during the early morning hours (midnight-6 am) compared to controls. CONCLUSIONS: Results are consistent with previous research into MPS III and suggest that there is an impairment in circadian rhythm functioning in children with this condition. Implications for clinical practice and the management of sleep difficulties are discussed. En ligne : http://dx.doi.org/10.1186/s11689-015-9126-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms / S. C. HUIJBREGTS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.32 Titre : Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms Type de document : Texte imprimé et/ou numérique Auteurs : S. C. HUIJBREGTS, Auteur ; M. LOITFELDER, Auteur ; S. A. ROMBOUTS, Auteur ; H. SWAAB, Auteur ; B. M. VERBIST, Auteur ; E. B. ARKINK, Auteur ; M. A. VAN BUCHEM, Auteur ; I. M. VEER, Auteur Article en page(s) : p.32 Langues : Anglais (eng) Mots-clés : Executive and social functioning  Gray matter  Magnetic resonance imaging  Neurofibromatosis type 1  Subcortical volume  Voxel-based morphometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in NF1 might underlie these social and cognitive problems. Cerebral volumetric abnormalities are among the most consistently observed CNS abnormalities in NF1. This study investigated whether differences were present between NF1 patients and healthy controls (HC) in volumetric measures of cortical and subcortical brain regions and whether differential associations existed for NF1 patients and HC between the volumetric measures and parent ratings of social skills, attention problems, social problems, autistic mannerisms, and executive dysfunction. METHODS: Fifteen NF1 patients (mean age 12.9 years, SD 2.6) and 18 healthy controls (HC, mean age 13.8 years, SD 3.6) underwent 3 T MRI scanning. Segmentation of cortical gray and white matter, as well as volumetry of subcortical nuclei, was carried out. Voxel-based morphometry was performed to assess cortical gray matter density. Correlations were calculated, for NF1-patients and HC separately, between MRI parameters and scores on selected dimensions of the following behavior rating scales: the Social Skills Rating System, the Child Behavior Checklist, the Social Responsiveness Scale, the Behavior Rating Inventory of Executive Functioning, and the Dysexecutive Questionnaire. RESULTS: After correction for age, sex, and intracranial volume, larger volumes of all subcortical regions were found in NF1 patients compared to controls. Patients further showed decreased gray matter density in midline regions of the frontal and parietal lobes and larger total white matter volume. Significantly more social and attention problems, more autistic mannerisms, and poorer executive functioning were reported for NF1 patients compared to HC. In NF1 patients, larger left putamen volume and larger total white matter volume were associated with more social problems and poorer executive functioning, larger right amygdala volume with poorer executive functioning and autistic mannerisms, and smaller precentral gyrus gray matter density was associated with more social problems. In controls, only significant negative correlations were observed: larger volumes (and greater gray matter density) were associated with better outcomes. CONCLUSIONS: Widespread volumetric differences between patients and controls were found in cortical and subcortical brain regions. In NF1 patients but not HC, larger volumes were associated with poorer behavior ratings. En ligne : http://dx.doi.org/10.1186/s11689-015-9128-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms [Texte imprimé et/ou numérique] / S. C. HUIJBREGTS, Auteur ; M. LOITFELDER, Auteur ; S. A. ROMBOUTS, Auteur ; H. SWAAB, Auteur ; B. M. VERBIST, Auteur ; E. B. ARKINK, Auteur ; M. A. VAN BUCHEM, Auteur ; I. M. VEER, Auteur . - p.32. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.32 Mots-clés : Executive and social functioning  Gray matter  Magnetic resonance imaging  Neurofibromatosis type 1  Subcortical volume  Voxel-based morphometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in NF1 might underlie these social and cognitive problems. Cerebral volumetric abnormalities are among the most consistently observed CNS abnormalities in NF1. This study investigated whether differences were present between NF1 patients and healthy controls (HC) in volumetric measures of cortical and subcortical brain regions and whether differential associations existed for NF1 patients and HC between the volumetric measures and parent ratings of social skills, attention problems, social problems, autistic mannerisms, and executive dysfunction. METHODS: Fifteen NF1 patients (mean age 12.9 years, SD 2.6) and 18 healthy controls (HC, mean age 13.8 years, SD 3.6) underwent 3 T MRI scanning. Segmentation of cortical gray and white matter, as well as volumetry of subcortical nuclei, was carried out. Voxel-based morphometry was performed to assess cortical gray matter density. Correlations were calculated, for NF1-patients and HC separately, between MRI parameters and scores on selected dimensions of the following behavior rating scales: the Social Skills Rating System, the Child Behavior Checklist, the Social Responsiveness Scale, the Behavior Rating Inventory of Executive Functioning, and the Dysexecutive Questionnaire. RESULTS: After correction for age, sex, and intracranial volume, larger volumes of all subcortical regions were found in NF1 patients compared to controls. Patients further showed decreased gray matter density in midline regions of the frontal and parietal lobes and larger total white matter volume. Significantly more social and attention problems, more autistic mannerisms, and poorer executive functioning were reported for NF1 patients compared to HC. In NF1 patients, larger left putamen volume and larger total white matter volume were associated with more social problems and poorer executive functioning, larger right amygdala volume with poorer executive functioning and autistic mannerisms, and smaller precentral gyrus gray matter density was associated with more social problems. In controls, only significant negative correlations were observed: larger volumes (and greater gray matter density) were associated with better outcomes. CONCLUSIONS: Widespread volumetric differences between patients and controls were found in cortical and subcortical brain regions. In NF1 patients but not HC, larger volumes were associated with poorer behavior ratings. En ligne : http://dx.doi.org/10.1186/s11689-015-9128-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex / C. TYE in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.33 Titre : Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : C. TYE, Auteur ; T. FARRONI, Auteur ; A. VOLEIN, Auteur ; E. MERCURE, Auteur ; L. TUCKER, Auteur ; M. H. JOHNSON, Auteur ; Patrick BOLTON, Auteur Article en page(s) : p.33 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Erp  Face  Gaze  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD within tuberous sclerosis complex (TSC), a rare disorder with a high incidence of ASD, but for which the genetic cause is determined. Individuals with ASD consistently demonstrate face processing impairments, but these have not been examined in adults with TSC using event-related potentials (ERPs) that are able to capture distinct temporal stages of processing. METHODS: For adults with TSC (n = 14), 6 of which had a diagnosis of ASD, and control adults (n = 13) passively viewed upright and inverted human faces with direct or averted gaze, with concurrent EEG recording. Amplitude and latency of the P1 and N170 ERPs were measured. RESULTS: Individuals with TSC + ASD exhibited longer N170 latencies to faces compared to typical adults. Typical adults and adults with TSC-only exhibited longer N170 latency to inverted versus upright faces, whereas individuals with TSC + ASD did not show latency differences according to face orientation. In addition, individuals with TSC + ASD showed increased N170 latency to averted compared to direct gaze, which was not demonstrated in typical adults. A reduced lateralization was shown for the TSC + ASD groups on P1 and N170 amplitude. CONCLUSIONS: The findings suggest that individuals with TSC + ASD may have similar electrophysiological abnormalities to idiopathic ASD and are suggestive of developmental delay. Identifying brain-based markers of ASD that are similar in TSC and idiopathic cases is likely to help elucidate the risk pathways to ASD. En ligne : http://dx.doi.org/10.1186/s11689-015-9129-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex [Texte imprimé et/ou numérique] / C. TYE, Auteur ; T. FARRONI, Auteur ; A. VOLEIN, Auteur ; E. MERCURE, Auteur ; L. TUCKER, Auteur ; M. H. JOHNSON, Auteur ; Patrick BOLTON, Auteur . - p.33. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.33 Mots-clés : Autism spectrum disorder  Erp  Face  Gaze  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD within tuberous sclerosis complex (TSC), a rare disorder with a high incidence of ASD, but for which the genetic cause is determined. Individuals with ASD consistently demonstrate face processing impairments, but these have not been examined in adults with TSC using event-related potentials (ERPs) that are able to capture distinct temporal stages of processing. METHODS: For adults with TSC (n = 14), 6 of which had a diagnosis of ASD, and control adults (n = 13) passively viewed upright and inverted human faces with direct or averted gaze, with concurrent EEG recording. Amplitude and latency of the P1 and N170 ERPs were measured. RESULTS: Individuals with TSC + ASD exhibited longer N170 latencies to faces compared to typical adults. Typical adults and adults with TSC-only exhibited longer N170 latency to inverted versus upright faces, whereas individuals with TSC + ASD did not show latency differences according to face orientation. In addition, individuals with TSC + ASD showed increased N170 latency to averted compared to direct gaze, which was not demonstrated in typical adults. A reduced lateralization was shown for the TSC + ASD groups on P1 and N170 amplitude. CONCLUSIONS: The findings suggest that individuals with TSC + ASD may have similar electrophysiological abnormalities to idiopathic ASD and are suggestive of developmental delay. Identifying brain-based markers of ASD that are similar in TSC and idiopathic cases is likely to help elucidate the risk pathways to ASD. En ligne : http://dx.doi.org/10.1186/s11689-015-9129-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Sensory modulation disorders in childhood epilepsy / J. S. VAN CAMPEN in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.34 Titre : Sensory modulation disorders in childhood epilepsy Type de document : Texte imprimé et/ou numérique Auteurs : J. S. VAN CAMPEN, Auteur ; F. E. JANSEN, Auteur ; N. J. KLEINRENSINK, Auteur ; M. JOELS, Auteur ; K. P. BRAUN, Auteur ; Hilgo BRUINING, Auteur Article en page(s) : p.34 Langues : Anglais (eng) Mots-clés : Epilepsy  Excitation  Seizures  Sensory modulation Index. décimale : PER Périodiques Résumé : BACKGROUND: Altered sensory sensitivity is generally linked to seizure-susceptibility in childhood epilepsy but may also be associated to the highly prevalent problems in behavioral adaptation. This association is further suggested by the frequent overlap of childhood epilepsy with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), conditions in which altered behavioral responses to sensory stimuli have been firmly established. A continuum of sensory processing defects due to imbalanced neuronal inhibition and excitation across these disorders has been hypothesizedthat may lead to common symptoms of inadequate modulation of behavioral responses to sensory stimuli. Here, we investigated the prevalence of sensory modulation disorders among children with epilepsy and their relation with symptomatology of neurodevelopmental disorders. METHODS: We used the Sensory Profile questionnaire to assess behavioral responses to sensory stimuli and categorize sensory modulation disorders in children with active epilepsy (aged 4-17 years). We related these outcomes to epilepsy characteristics and tested their association with comorbid symptoms of ASD (Social Responsiveness Scale) and ADHD (Strengths and Difficulties Questionnaire). RESULTS: Sensory modulation disorders were reported in 49 % of the 158 children. Children with epilepsy reported increased behavioral responses associated with sensory "sensitivity," "sensory avoidance," and "poor registration" but not "sensory seeking." Comorbidity of ASD and ADHD was associated with more severe sensory modulation problems, although 27 % of typically developing children with epilepsy also reported a sensory modulation disorder. CONCLUSIONS: Sensory modulation disorders are an under-recognized problem in children with epilepsy. The extent of the modulation difficulties indicates a substantial burden on daily functioning and may explain an important part of the behavioral distress associated with childhood epilepsy. En ligne : http://dx.doi.org/10.1186/s11689-015-9130-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Sensory modulation disorders in childhood epilepsy [Texte imprimé et/ou numérique] / J. S. VAN CAMPEN, Auteur ; F. E. JANSEN, Auteur ; N. J. KLEINRENSINK, Auteur ; M. JOELS, Auteur ; K. P. BRAUN, Auteur ; Hilgo BRUINING, Auteur . - p.34. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.34 Mots-clés : Epilepsy  Excitation  Seizures  Sensory modulation Index. décimale : PER Périodiques Résumé : BACKGROUND: Altered sensory sensitivity is generally linked to seizure-susceptibility in childhood epilepsy but may also be associated to the highly prevalent problems in behavioral adaptation. This association is further suggested by the frequent overlap of childhood epilepsy with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), conditions in which altered behavioral responses to sensory stimuli have been firmly established. A continuum of sensory processing defects due to imbalanced neuronal inhibition and excitation across these disorders has been hypothesizedthat may lead to common symptoms of inadequate modulation of behavioral responses to sensory stimuli. Here, we investigated the prevalence of sensory modulation disorders among children with epilepsy and their relation with symptomatology of neurodevelopmental disorders. METHODS: We used the Sensory Profile questionnaire to assess behavioral responses to sensory stimuli and categorize sensory modulation disorders in children with active epilepsy (aged 4-17 years). We related these outcomes to epilepsy characteristics and tested their association with comorbid symptoms of ASD (Social Responsiveness Scale) and ADHD (Strengths and Difficulties Questionnaire). RESULTS: Sensory modulation disorders were reported in 49 % of the 158 children. Children with epilepsy reported increased behavioral responses associated with sensory "sensitivity," "sensory avoidance," and "poor registration" but not "sensory seeking." Comorbidity of ASD and ADHD was associated with more severe sensory modulation problems, although 27 % of typically developing children with epilepsy also reported a sensory modulation disorder. CONCLUSIONS: Sensory modulation disorders are an under-recognized problem in children with epilepsy. The extent of the modulation difficulties indicates a substantial burden on daily functioning and may explain an important part of the behavioral distress associated with childhood epilepsy. En ligne : http://dx.doi.org/10.1186/s11689-015-9130-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Complete or partial reduction of the Met receptor tyrosine kinase in distinct circuits differentially impacts mouse behavior / B. L. THOMPSON in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.35 Titre : Complete or partial reduction of the Met receptor tyrosine kinase in distinct circuits differentially impacts mouse behavior Type de document : Texte imprimé et/ou numérique Auteurs : B. L. THOMPSON, Auteur ; P. LEVITT, Auteur Article en page(s) : p.35 Langues : Anglais (eng) Mots-clés : Autism  Behavior  Fear learning  Gene dose  Met  Mouse  Phenotype Index. décimale : PER Périodiques Résumé : BACKGROUND: Our laboratory discovered that the gene encoding the receptor tyrosine kinase, MET, contributes to autism risk. Expression of MET is reduced in human postmortem temporal lobe in autism and Rett Syndrome. Subsequent studies revealed a role for MET in human and mouse functional and structural cortical connectivity. To further understand the contribution of Met to brain development and its impact on behavior, we generated two conditional mouse lines in which Met is deleted from select populations of central nervous system neurons. Mice were then tested to determine the consequences of disrupting Met expression. METHODS: Mating of Emx1 (cre) and Met (fx/fx) mice eliminates receptor signaling from all cells arising from the dorsal pallium. Met (fx/fx) and Nestin (cre) crosses result in receptor signaling elimination from all neural cells. Behavioral tests were performed to assess cognitive, emotional, and social impairments that are observed in multiple neurodevelopmental disorders and that are in part subserved by circuits that express Met. RESULTS: Met (fx/fx) /Emx1 (cre) null mice displayed significant hypoactivity in the activity chamber and in the T-maze despite superior performance on the rotarod. Additionally, these animals showed a deficit in spontaneous alternation. Surprisingly, Met (fx/fx; fx/+) /Nestin (cre) null and heterozygous mice exhibited deficits in contextual fear conditioning, and Met (fx/+) /Nestin (cre) heterozygous mice spent less time in the closed arms of the elevated plus maze. CONCLUSIONS: These data suggest a complex contribution of Met in the development of circuits mediating social, emotional, and cognitive behavior. The impact of disrupting developmental Met expression is dependent upon circuit-specific deletion patterns and levels of receptor activity. En ligne : http://dx.doi.org/10.1186/s11689-015-9131-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Complete or partial reduction of the Met receptor tyrosine kinase in distinct circuits differentially impacts mouse behavior [Texte imprimé et/ou numérique] / B. L. THOMPSON, Auteur ; P. LEVITT, Auteur . - p.35. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.35 Mots-clés : Autism  Behavior  Fear learning  Gene dose  Met  Mouse  Phenotype Index. décimale : PER Périodiques Résumé : BACKGROUND: Our laboratory discovered that the gene encoding the receptor tyrosine kinase, MET, contributes to autism risk. Expression of MET is reduced in human postmortem temporal lobe in autism and Rett Syndrome. Subsequent studies revealed a role for MET in human and mouse functional and structural cortical connectivity. To further understand the contribution of Met to brain development and its impact on behavior, we generated two conditional mouse lines in which Met is deleted from select populations of central nervous system neurons. Mice were then tested to determine the consequences of disrupting Met expression. METHODS: Mating of Emx1 (cre) and Met (fx/fx) mice eliminates receptor signaling from all cells arising from the dorsal pallium. Met (fx/fx) and Nestin (cre) crosses result in receptor signaling elimination from all neural cells. Behavioral tests were performed to assess cognitive, emotional, and social impairments that are observed in multiple neurodevelopmental disorders and that are in part subserved by circuits that express Met. RESULTS: Met (fx/fx) /Emx1 (cre) null mice displayed significant hypoactivity in the activity chamber and in the T-maze despite superior performance on the rotarod. Additionally, these animals showed a deficit in spontaneous alternation. Surprisingly, Met (fx/fx; fx/+) /Nestin (cre) null and heterozygous mice exhibited deficits in contextual fear conditioning, and Met (fx/+) /Nestin (cre) heterozygous mice spent less time in the closed arms of the elevated plus maze. CONCLUSIONS: These data suggest a complex contribution of Met in the development of circuits mediating social, emotional, and cognitive behavior. The impact of disrupting developmental Met expression is dependent upon circuit-specific deletion patterns and levels of receptor activity. En ligne : http://dx.doi.org/10.1186/s11689-015-9131-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Associations between physical growth and general cognitive functioning in international adoptees from Eastern Europe at 30 months post-arrival / M. G. KROUPINA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.36 Titre : Associations between physical growth and general cognitive functioning in international adoptees from Eastern Europe at 30 months post-arrival Type de document : Texte imprimé et/ou numérique Auteurs : M. G. KROUPINA, Auteur ; J. K. ECKERLE, Auteur ; A. J. FUGLESTAD, Auteur ; L. TOEMEN, Auteur ; S. MOBERG, Auteur ; J. H. HIMES, Auteur ; B. S. MILLER, Auteur ; A. PETRYK, Auteur ; D. E. JOHNSON, Auteur Article en page(s) : p.36 Langues : Anglais (eng) Mots-clés : Cognitive functioning  Early adversity  Growth hormone system  International adoption  Physical growth Index. décimale : PER Périodiques Résumé : BACKGROUND: Internationally adopted children have often experienced early adversity and growth suppression as a consequence of institutional care. Furthermore, these children are at risk for impaired cognitive development due to their early adverse experiences. This study examined the association between physical growth, the growth hormone (GH) system, and general cognitive functioning post-adoption. Based on previous research, we expected to find that a child's initial physical growth status and normalization of the growth hormone-insulin-like growth factor 1 (GH-IGF-1) axis would be positive predictors of general cognitive functioning. METHODS: Post-institutionalized children (n = 46) adopted from Eastern Europe were seen approximately 1 month after their arrival into the USA to determine baseline measurements. They were seen again 6 and 30 months later for two follow-up sessions. Measures included anthropometry, insulin-like growth factor-1 (IGF-1), IGF binding protein-3 (IGFBP-3), Mullen Scales of Early Learning, and Stanford-Binet Intelligence Scales. Information about parental education was also collected. RESULTS: We found that a child's general cognitive functioning at 30 months post-adoption was predicted by their general developmental scores at 6 months post-adoption, their initial height status, and markers of the growth hormone system. Children with lower initial IGFBP-3 standard deviation (SD) scores had higher verbal IQ scores at 30 months. Furthermore, a child's initial height was found to be a significant positive predictor of non-verbal IQ. CONCLUSIONS: These results suggest an association between a child's suppressed physical growth in response to early adversity and alterations in GH system functioning and subsequent recovery in cognitive functioning. En ligne : http://dx.doi.org/10.1186/s11689-015-9132-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Associations between physical growth and general cognitive functioning in international adoptees from Eastern Europe at 30 months post-arrival [Texte imprimé et/ou numérique] / M. G. KROUPINA, Auteur ; J. K. ECKERLE, Auteur ; A. J. FUGLESTAD, Auteur ; L. TOEMEN, Auteur ; S. MOBERG, Auteur ; J. H. HIMES, Auteur ; B. S. MILLER, Auteur ; A. PETRYK, Auteur ; D. E. JOHNSON, Auteur . - p.36. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.36 Mots-clés : Cognitive functioning  Early adversity  Growth hormone system  International adoption  Physical growth Index. décimale : PER Périodiques Résumé : BACKGROUND: Internationally adopted children have often experienced early adversity and growth suppression as a consequence of institutional care. Furthermore, these children are at risk for impaired cognitive development due to their early adverse experiences. This study examined the association between physical growth, the growth hormone (GH) system, and general cognitive functioning post-adoption. Based on previous research, we expected to find that a child's initial physical growth status and normalization of the growth hormone-insulin-like growth factor 1 (GH-IGF-1) axis would be positive predictors of general cognitive functioning. METHODS: Post-institutionalized children (n = 46) adopted from Eastern Europe were seen approximately 1 month after their arrival into the USA to determine baseline measurements. They were seen again 6 and 30 months later for two follow-up sessions. Measures included anthropometry, insulin-like growth factor-1 (IGF-1), IGF binding protein-3 (IGFBP-3), Mullen Scales of Early Learning, and Stanford-Binet Intelligence Scales. Information about parental education was also collected. RESULTS: We found that a child's general cognitive functioning at 30 months post-adoption was predicted by their general developmental scores at 6 months post-adoption, their initial height status, and markers of the growth hormone system. Children with lower initial IGFBP-3 standard deviation (SD) scores had higher verbal IQ scores at 30 months. Furthermore, a child's initial height was found to be a significant positive predictor of non-verbal IQ. CONCLUSIONS: These results suggest an association between a child's suppressed physical growth in response to early adversity and alterations in GH system functioning and subsequent recovery in cognitive functioning. En ligne : http://dx.doi.org/10.1186/s11689-015-9132-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Route knowledge and configural knowledge in typical and atypical development: a comparison of sparse and rich environments / E. 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 et/ou numérique Auteurs : E. K. FARRAN, Auteur ; H. R. PURSER, Auteur ; Y. COURBOIS, Auteur ; M. BALLE, Auteur ; P. SOCKEEL, Auteur ; D. 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 et/ou numérique] / E. K. FARRAN, Auteur ; H. R. PURSER, Auteur ; Y. COURBOIS, Auteur ; M. BALLE, Auteur ; P. SOCKEEL, Auteur ; D. 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