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The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2-q13) in Autism Research, 11-10 (October 2018)
[article]
Titre : The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2-q13) Type de document : Texte imprimé et/ou numérique Article en page(s) : p.1316-1331 Langues : Anglais (eng) Mots-clés : astrocyte duplication 15q11.2-q13/autism fragile X mental retardation protein idiopathic autism neuron Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS), caused by lack of fragile X mental retardation protein (FMRP), is associated with a high prevalence of autism. The deficit of FMRP reported in idiopathic autism suggests a mechanistic overlap between FXS and autism. The overall goal of this study is to detect neuropathological commonalities of FMRP deficits in the brains of people with idiopathic autism and with syndromic autism caused by dup15q11.2-q13 (dup15). This study tests the hypothesis based on our preliminary data that both idiopathic and syndromic autism are associated with brain region-specific deficits of neuronal FMRP and structural changes of the affected neurons. This immunocytochemical study revealed neuronal FMRP deficits and shrinkage of deficient neurons in the cerebral cortex, subcortical structures, and cerebellum in subjects with idiopathic and dup(15)/autism. Neuronal FMRP deficit coexists with surprising infiltration of the brains of autistic children and adults with FMRP-positive astrocytes known to be typical only for the fetal and short postnatal periods. In the examined autistic subjects, these astrocytes selectively infiltrate the border between white and gray matter in the cerebral and cerebellar cortex, the molecular layer of the cortex, part of the amygdala and thalamus, central cerebellar white matter, and dentate nucleus. Astrocyte pathology results in an additional local loss of FMRP in neurons and their shrinkage. Neuronal deficit of FMRP and shrinkage of affected neurons in structures free of FMRP-positive astrocytes and regions infiltrated with FMRP-expressing astrocytes appear to reflect mechanistic, neuropathological, and functional commonalities of FMRP abnormalities in FXS and autism spectrum disorder. Autism Res 2018, 11: 1316-1331. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Immunocytochemistry reveals a deficit of fragile X mental retardation protein (FMRP) in neurons of cortical and subcortical brain structures but increased FMRP expression in astrocytes infiltrating gray and white matter. The detected shrinkage of FMRP-deficient neurons may provide a mechanistic explanation of reported neuronal structural and functional changes in autism. This study contributes to growing evidence of mechanistic commonalities between fragile X syndrome and autism spectrum disorder. En ligne : http://dx.doi.org/10.1002/aur.2003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369
in Autism Research > 11-10 (October 2018) . - p.1316-1331[article] The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2-q13) [Texte imprimé et/ou numérique] . - p.1316-1331.
Langues : Anglais (eng)
in Autism Research > 11-10 (October 2018) . - p.1316-1331
Mots-clés : astrocyte duplication 15q11.2-q13/autism fragile X mental retardation protein idiopathic autism neuron Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS), caused by lack of fragile X mental retardation protein (FMRP), is associated with a high prevalence of autism. The deficit of FMRP reported in idiopathic autism suggests a mechanistic overlap between FXS and autism. The overall goal of this study is to detect neuropathological commonalities of FMRP deficits in the brains of people with idiopathic autism and with syndromic autism caused by dup15q11.2-q13 (dup15). This study tests the hypothesis based on our preliminary data that both idiopathic and syndromic autism are associated with brain region-specific deficits of neuronal FMRP and structural changes of the affected neurons. This immunocytochemical study revealed neuronal FMRP deficits and shrinkage of deficient neurons in the cerebral cortex, subcortical structures, and cerebellum in subjects with idiopathic and dup(15)/autism. Neuronal FMRP deficit coexists with surprising infiltration of the brains of autistic children and adults with FMRP-positive astrocytes known to be typical only for the fetal and short postnatal periods. In the examined autistic subjects, these astrocytes selectively infiltrate the border between white and gray matter in the cerebral and cerebellar cortex, the molecular layer of the cortex, part of the amygdala and thalamus, central cerebellar white matter, and dentate nucleus. Astrocyte pathology results in an additional local loss of FMRP in neurons and their shrinkage. Neuronal deficit of FMRP and shrinkage of affected neurons in structures free of FMRP-positive astrocytes and regions infiltrated with FMRP-expressing astrocytes appear to reflect mechanistic, neuropathological, and functional commonalities of FMRP abnormalities in FXS and autism spectrum disorder. Autism Res 2018, 11: 1316-1331. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Immunocytochemistry reveals a deficit of fragile X mental retardation protein (FMRP) in neurons of cortical and subcortical brain structures but increased FMRP expression in astrocytes infiltrating gray and white matter. The detected shrinkage of FMRP-deficient neurons may provide a mechanistic explanation of reported neuronal structural and functional changes in autism. This study contributes to growing evidence of mechanistic commonalities between fragile X syndrome and autism spectrum disorder. En ligne : http://dx.doi.org/10.1002/aur.2003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers / C. BOLBOCEAN in Journal of Autism and Developmental Disorders, 52-3 (March 2022)
[article]
Titre : Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers Type de document : Texte imprimé et/ou numérique Auteurs : C. BOLBOCEAN, Auteur ; F. N. ANDÚJAR, Auteur ; M. MCCORMACK, Auteur ; B. SUTER, Auteur ; J. L. HOLDER, Auteur Article en page(s) : p.1334-1345 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Caregivers Child Chromosome Disorders/genetics Humans Intellectual Disability/diagnosis Quality of Life Autism spectrum disorder Beach center family quality of life Clinical research Diabetes Health related quality of life Idiopathic autism Intellectual disability Pediatric quality of life inventory Phelan-McDermid syndrome Rett syndrome SYNGAP1 related intellectual disability Index. décimale : PER Périodiques Résumé : Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in children diagnosed with three genetic disorders that strongly predispose to syndromic autism: Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1-related intellectual disability (SYNGAP1-ID). We find the most severely impacted dimension is physical functioning. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs. En ligne : http://dx.doi.org/10.1007/s10803-021-05030-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455
in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1334-1345[article] Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers [Texte imprimé et/ou numérique] / C. BOLBOCEAN, Auteur ; F. N. ANDÚJAR, Auteur ; M. MCCORMACK, Auteur ; B. SUTER, Auteur ; J. L. HOLDER, Auteur . - p.1334-1345.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1334-1345
Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Caregivers Child Chromosome Disorders/genetics Humans Intellectual Disability/diagnosis Quality of Life Autism spectrum disorder Beach center family quality of life Clinical research Diabetes Health related quality of life Idiopathic autism Intellectual disability Pediatric quality of life inventory Phelan-McDermid syndrome Rett syndrome SYNGAP1 related intellectual disability Index. décimale : PER Périodiques Résumé : Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in children diagnosed with three genetic disorders that strongly predispose to syndromic autism: Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1-related intellectual disability (SYNGAP1-ID). We find the most severely impacted dimension is physical functioning. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs. En ligne : http://dx.doi.org/10.1007/s10803-021-05030-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females / Karen BLACKMON in Autism Research, 9-2 (February 2016)
[article]
Titre : Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females Type de document : Texte imprimé et/ou numérique Auteurs : Karen BLACKMON, Auteur ; Judith BLUVSTEIN, Auteur ; William S. MACALLISTER, Auteur ; Jennifer AVALLONE, Auteur ; Jade MISAJON, Auteur ; Julie HEDLUND, Auteur ; Rina GOLDBERG, Auteur ; Aviva BOJKO, Auteur ; Nirmala MITRA, Auteur ; Radha GIRIDHARAN, Auteur ; Richard SULTAN, Auteur ; Seth KELLER, Auteur ; Orrin DEVINSKY, Auteur Article en page(s) : p.311-320 Langues : Anglais (eng) Mots-clés : autism spectrum disorder epilepsy developmental disorders sex differences idiopathic autism complex autism copy-number variants female protective model Index. décimale : PER Périodiques Résumé : The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. En ligne : http://dx.doi.org/10.1002/aur.1514 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Autism Research > 9-2 (February 2016) . - p.311-320[article] Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females [Texte imprimé et/ou numérique] / Karen BLACKMON, Auteur ; Judith BLUVSTEIN, Auteur ; William S. MACALLISTER, Auteur ; Jennifer AVALLONE, Auteur ; Jade MISAJON, Auteur ; Julie HEDLUND, Auteur ; Rina GOLDBERG, Auteur ; Aviva BOJKO, Auteur ; Nirmala MITRA, Auteur ; Radha GIRIDHARAN, Auteur ; Richard SULTAN, Auteur ; Seth KELLER, Auteur ; Orrin DEVINSKY, Auteur . - p.311-320.
Langues : Anglais (eng)
in Autism Research > 9-2 (February 2016) . - p.311-320
Mots-clés : autism spectrum disorder epilepsy developmental disorders sex differences idiopathic autism complex autism copy-number variants female protective model Index. décimale : PER Périodiques Résumé : The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. En ligne : http://dx.doi.org/10.1002/aur.1514 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282