Dépouillements

The genetic basis of non-syndromic intellectual disability: a review / L. KAUFMAN in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.182-209 Titre : The genetic basis of non-syndromic intellectual disability: a review Type de document : Texte imprimé et/ou numérique Auteurs : L. KAUFMAN, Auteur ; M. AYUB, Auteur ; J. B. VINCENT, Auteur Article en page(s) : p.182-209 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect. However, where co-morbid features are absent, narrowing down a specific gene can only be done by 'brute force' using the latest molecular genetic techniques. Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins. Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID. En ligne : http://dx.doi.org/10.1007/s11689-010-9055-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] The genetic basis of non-syndromic intellectual disability: a review [Texte imprimé et/ou numérique] / L. KAUFMAN, Auteur ; M. AYUB, Auteur ; J. B. VINCENT, Auteur . - p.182-209. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.182-209 Index. décimale : PER Périodiques Résumé : Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect. However, where co-morbid features are absent, narrowing down a specific gene can only be done by 'brute force' using the latest molecular genetic techniques. Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins. Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID. En ligne : http://dx.doi.org/10.1007/s11689-010-9055-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci / J. F. FLAX in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.210-223 Titre : Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci Type de document : Texte imprimé et/ou numérique Auteurs : J. F. FLAX, Auteur ; A. HARE, Auteur ; M. A. AZARO, Auteur ; V. J. VIELAND, Auteur ; L. M. BRZUSTOWICZ, Auteur Article en page(s) : p.210-223 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spectrum Disorders (ASD) who exhibit expressive language behaviors consistent with a motor speech disorder. Speech and language variables from Autism Diagnostic Interview-Revised (ADI-R) were used to develop a motor speech phenotype associated with non-verbal or unintelligible verbal behaviors (NVMSD:ALL) and a related phenotype restricted to individuals without significant comprehension difficulties (NVMSD:C). Using Affymetrix 5.0 data, the PPL framework was employed to assess the strength of evidence for or against trait-marker linkage and linkage disequilibrium (LD) across the genome. Ingenuity Pathway Analysis (IPA) was then utilized to identify potential genes for further investigation. We identified several linkage peaks based on two related language-speech phenotypes consistent with a potential motor speech disorder: chromosomes 1q24.2, 3q25.31, 4q22.3, 5p12, 5q33.1, 17p12, 17q11.2, and 17q22 for NVMSD:ALL and 4p15.2 and 21q22.2 for NVMSD:C. While no compelling evidence of association was obtained under those peaks, we identified several potential genes of interest using IPA. CONCLUSION: Several linkage peaks were identified based on two motor speech phenotypes. In the absence of evidence of association under these peaks, we suggest genes for further investigation based on their biological functions. Given that autism spectrum disorders are complex with a wide range of behaviors and a large number of underlying genes, these speech phenotypes may belong to a group of several that should be considered when developing narrow, well-defined, phenotypes in the attempt to reduce genetic heterogeneity. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-010-9063-2) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-010-9063-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci [Texte imprimé et/ou numérique] / J. F. FLAX, Auteur ; A. HARE, Auteur ; M. A. AZARO, Auteur ; V. J. VIELAND, Auteur ; L. M. BRZUSTOWICZ, Auteur . - p.210-223. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.210-223 Index. décimale : PER Périodiques Résumé : Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spectrum Disorders (ASD) who exhibit expressive language behaviors consistent with a motor speech disorder. Speech and language variables from Autism Diagnostic Interview-Revised (ADI-R) were used to develop a motor speech phenotype associated with non-verbal or unintelligible verbal behaviors (NVMSD:ALL) and a related phenotype restricted to individuals without significant comprehension difficulties (NVMSD:C). Using Affymetrix 5.0 data, the PPL framework was employed to assess the strength of evidence for or against trait-marker linkage and linkage disequilibrium (LD) across the genome. Ingenuity Pathway Analysis (IPA) was then utilized to identify potential genes for further investigation. We identified several linkage peaks based on two related language-speech phenotypes consistent with a potential motor speech disorder: chromosomes 1q24.2, 3q25.31, 4q22.3, 5p12, 5q33.1, 17p12, 17q11.2, and 17q22 for NVMSD:ALL and 4p15.2 and 21q22.2 for NVMSD:C. While no compelling evidence of association was obtained under those peaks, we identified several potential genes of interest using IPA. CONCLUSION: Several linkage peaks were identified based on two motor speech phenotypes. In the absence of evidence of association under these peaks, we suggest genes for further investigation based on their biological functions. Given that autism spectrum disorders are complex with a wide range of behaviors and a large number of underlying genes, these speech phenotypes may belong to a group of several that should be considered when developing narrow, well-defined, phenotypes in the attempt to reduce genetic heterogeneity. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-010-9063-2) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-010-9063-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome / M. SCHAER in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.224-234 Titre : Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. SCHAER, Auteur ; B. GLASER, Auteur ; M. C. OTTET, Auteur ; M. SCHNEIDER, Auteur ; M. BACH CUADRA, Auteur ; M. DEBBANE, Auteur ; J. P. THIRAN, Auteur ; S. ELIEZ, Auteur Article en page(s) : p.224-234 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations. En ligne : http://dx.doi.org/10.1007/s11689-010-9061-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / M. SCHAER, Auteur ; B. GLASER, Auteur ; M. C. OTTET, Auteur ; M. SCHNEIDER, Auteur ; M. BACH CUADRA, Auteur ; M. DEBBANE, Auteur ; J. P. THIRAN, Auteur ; S. ELIEZ, Auteur . - p.224-234. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.224-234 Index. décimale : PER Périodiques Résumé : Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations. En ligne : http://dx.doi.org/10.1007/s11689-010-9061-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Hyperactivity, impulsivity, and inattention in boys with cleft lip and palate: relationship to ventromedial prefrontal cortex morphology / P. NOPOULOS in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.235-42 Titre : Hyperactivity, impulsivity, and inattention in boys with cleft lip and palate: relationship to ventromedial prefrontal cortex morphology Type de document : Texte imprimé et/ou numérique Auteurs : P. NOPOULOS, Auteur ; A. D. BOES, Auteur ; A. JABINES, Auteur ; A. L. CONRAD, Auteur ; J. CANADY, Auteur ; L. RICHMAN, Auteur ; J. D. DAWSON, Auteur Article en page(s) : p.235-42 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The purpose of this study is to evaluate quantitative structural measures of the ventromedial prefrontal cortex (vmPFC) in boys with isolated clefts of the lip and/or palate (ICLP) relative to a comparison group and to associate measures of brain structure with quantitative measures of hyperactivity, impulsivity, and inattentiveness. A total of 50 boys with ICLP were compared to 60 healthy boys without clefts. Magnetic resonance imaging brain scans were used to evaluate vmPFC structure. Parents and teachers provided quantitative measures of hyperactivity, impulsivity, and inattentiveness using the Pediatric Behavior Scale. Boys with ICLP had significantly higher ratings of hyperactivity/impulsivity/inattention (HII) and significantly increased volume of the right vmPFC relative to the comparison group. There was a direct relationship between HII score and vmPFC volume in both the ICLP group and control group, but the relationship was in the opposite direction: in ICLP, the higher the vmPFC volume, the higher the HII score; for the comparison group, the lower the vmPFC volume, the greater the HII score. The vmPFC is a region of the brain that governs behaviors of hyperactivity, impulsivity and inattention (HII). In boys with ICLP, there are higher levels of HII compared to the controls and this is directly related to a significantly enlarged volume of the right vmPFC. Enlargement of this region of the brain is therefore considered to be pathological in the ICLP group and supports the notion that abnormal brain structure (from abnormal brain development) is the underlying etiology for the abnormal behaviors seen in this population. En ligne : http://dx.doi.org/10.1007/s11689-010-9060-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Hyperactivity, impulsivity, and inattention in boys with cleft lip and palate: relationship to ventromedial prefrontal cortex morphology [Texte imprimé et/ou numérique] / P. NOPOULOS, Auteur ; A. D. BOES, Auteur ; A. JABINES, Auteur ; A. L. CONRAD, Auteur ; J. CANADY, Auteur ; L. RICHMAN, Auteur ; J. D. DAWSON, Auteur . - p.235-42. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.235-42 Index. décimale : PER Périodiques Résumé : The purpose of this study is to evaluate quantitative structural measures of the ventromedial prefrontal cortex (vmPFC) in boys with isolated clefts of the lip and/or palate (ICLP) relative to a comparison group and to associate measures of brain structure with quantitative measures of hyperactivity, impulsivity, and inattentiveness. A total of 50 boys with ICLP were compared to 60 healthy boys without clefts. Magnetic resonance imaging brain scans were used to evaluate vmPFC structure. Parents and teachers provided quantitative measures of hyperactivity, impulsivity, and inattentiveness using the Pediatric Behavior Scale. Boys with ICLP had significantly higher ratings of hyperactivity/impulsivity/inattention (HII) and significantly increased volume of the right vmPFC relative to the comparison group. There was a direct relationship between HII score and vmPFC volume in both the ICLP group and control group, but the relationship was in the opposite direction: in ICLP, the higher the vmPFC volume, the higher the HII score; for the comparison group, the lower the vmPFC volume, the greater the HII score. The vmPFC is a region of the brain that governs behaviors of hyperactivity, impulsivity and inattention (HII). In boys with ICLP, there are higher levels of HII compared to the controls and this is directly related to a significantly enlarged volume of the right vmPFC. Enlargement of this region of the brain is therefore considered to be pathological in the ICLP group and supports the notion that abnormal brain structure (from abnormal brain development) is the underlying etiology for the abnormal behaviors seen in this population. En ligne : http://dx.doi.org/10.1007/s11689-010-9060-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment / A. B. STEINMETZ in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.243-251 Titre : Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment Type de document : Texte imprimé et/ou numérique Auteurs : A. B. STEINMETZ, Auteur ; M. L. RICE, Auteur Article en page(s) : p.243-251 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Cerebellar impairments have been hypothesized as part of the pathogenesis of Specific Language Impairment (SLI), although direct evidence of cerebellar involvement is sparse. Eyeblink Conditioning (EBC) is a learning task with well documented cerebellar pathways. This is the first study of EBC in affected adolescents and controls. 16 adolescent controls, 15 adolescents with SLI, and 12 adult controls participated in a delay EBC task. Affected children had low general language performance, grammatical deficits but no speech impairments. The affected group did not differ from the control adolescent or control adult group, showing intact cerebellar functioning on the EBC task. This study did not support cerebellar impairment at the level of basic learning pathways as part of the pathogenesis of SLI. Outcomes do not rule out cerebellar influences on speech impairment, or possible other forms of cerebellar functioning as contributing to SLI. En ligne : http://dx.doi.org/10.1007/s11689-010-9058-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment [Texte imprimé et/ou numérique] / A. B. STEINMETZ, Auteur ; M. L. RICE, Auteur . - p.243-251. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.243-251 Index. décimale : PER Périodiques Résumé : Cerebellar impairments have been hypothesized as part of the pathogenesis of Specific Language Impairment (SLI), although direct evidence of cerebellar involvement is sparse. Eyeblink Conditioning (EBC) is a learning task with well documented cerebellar pathways. This is the first study of EBC in affected adolescents and controls. 16 adolescent controls, 15 adolescents with SLI, and 12 adult controls participated in a delay EBC task. Affected children had low general language performance, grammatical deficits but no speech impairments. The affected group did not differ from the control adolescent or control adult group, showing intact cerebellar functioning on the EBC task. This study did not support cerebellar impairment at the level of basic learning pathways as part of the pathogenesis of SLI. Outcomes do not rule out cerebellar influences on speech impairment, or possible other forms of cerebellar functioning as contributing to SLI. En ligne : http://dx.doi.org/10.1007/s11689-010-9058-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342