Contribution of chromosomal abnormalities at 10q and 22q to autism / Nagwa A. MEGUID in Research in Autism Spectrum Disorders, 50 (June 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 50 (June 2018) . - p.43-50 Titre : Contribution of chromosomal abnormalities at 10q and 22q to autism Type de document : Texte imprimé et/ou numérique Auteurs : Nagwa A. MEGUID, Auteur ; Maha M. EID, Auteur ; Amal M. MOHAMED, Auteur ; Heba GHANOUM, Auteur ; Nivine A. HELMY, Auteur ; Ola M. EID, Auteur Année de publication : 2018 Article en page(s) : p.43-50 Langues : Anglais (eng) Mots-clés : Autism  Chromosomal abnormalities  Chromosome 10q  Chromosome 22q Index. décimale : PER Périodiques Résumé : Autism’s etiology is heterogeneous. It derives generically from a complex of interactions between genetic, epigenetic and environmental factors. Chromosomal rearrangements at almost all chromosomes have been reported among individuals with autism spectrum disorders (ASD). In this report, we represent three autistic patients with chromosomal abnormalities at 10q and 22q with an interesting case of 10q duplication rather than deletion. This report explores the contribution of the affected genomic regions to ASD. It may contribute to the field of research categorizing candidate loci for ASD, which would be useful in genotype– phenotype analyses for ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.03.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=356 [article] Contribution of chromosomal abnormalities at 10q and 22q to autism [Texte imprimé et/ou numérique] / Nagwa A. MEGUID, Auteur ; Maha M. EID, Auteur ; Amal M. MOHAMED, Auteur ; Heba GHANOUM, Auteur ; Nivine A. HELMY, Auteur ; Ola M. EID, Auteur . - 2018 . - p.43-50. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 50 (June 2018) . - p.43-50 Mots-clés : Autism  Chromosomal abnormalities  Chromosome 10q  Chromosome 22q Index. décimale : PER Périodiques Résumé : Autism’s etiology is heterogeneous. It derives generically from a complex of interactions between genetic, epigenetic and environmental factors. Chromosomal rearrangements at almost all chromosomes have been reported among individuals with autism spectrum disorders (ASD). In this report, we represent three autistic patients with chromosomal abnormalities at 10q and 22q with an interesting case of 10q duplication rather than deletion. This report explores the contribution of the affected genomic regions to ASD. It may contribute to the field of research categorizing candidate loci for ASD, which would be useful in genotype– phenotype analyses for ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.03.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=356

Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder / Nagwa A. MEGUID in Research in Autism Spectrum Disorders, 75 (July 2020)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 75 (July 2020) . - p.101558 Titre : Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nagwa A. MEGUID, Auteur ; Ola M. EID, Auteur ; Mona REDA, Auteur ; Dina Y. ELALFY, Auteur ; Fatma HUSSEIN, Auteur Article en page(s) : p.101558 Langues : Anglais (eng) Mots-clés : Autism  Copy number variations  SHANK3  Sensory profiles  MLPA Index. décimale : PER Périodiques Résumé : Background Current estimates indicate that >80 % of children with autism spectrum disorder (ASD) exhibit concomitant sensory processing problems and hyper- or hypo-reactivity to sensory input. These are now included as diagnostic criteria for ASD in the Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition. Chromosomal rearrangements, copy number variations (CNVs), and coding sequence variants involving >100 genes have been identified in patients with ASD. Studying the CNVs of one such gene, SHANK3, and the associated phenotype in patients with ASD could provide insights that will guide future ASD treatments and interventions. Objective To assess SHANK3 CNVs in children with ASD and investigate their sensory processing patterns using the Short Sensory Profile (SSP). Subjects and methods Forty children with ASD were assessed using the Autism Diagnostic Interview-Revised. SSP was used to evaluate atypical sensory behavior, e.g., hyper- or hypo-reactivity to sensory input or unusual sensory interests. SHANK3 CNVs were assessed in these children using Multiplex Ligation-dependent Probe Amplification. Results Of the 40 cases, 77.5 % showed sensory reactivity symptoms. The greatest difference from normality was observed in the under-responsive/seeks sensation domain, followed by the tactile sensitivity domain, whereas hypo-activity (low-energy/weak domain) was closest to normal. The sensory reactivity symptoms were significantly correlated with the severity of ASD. However, only three of the 40 cases had de novo duplications at 22q13.33. The duplications included SHANK3 in two of the cases and only the distal flanking region of SHANK3 in the third case. All three duplication cases also showed symptoms associated with the low-energy/weak domain. Conclusion We found that children with ASD exhibited sensory processing problems. The SHANK3 copy number gains found demonstrate the gene dosage effect of SHANK3 in ASD pathogenesis. This study adds to the growing understanding of 22q13 duplications that include SHANK3. En ligne : https://doi.org/10.1016/j.rasd.2020.101558 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426 [article] Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder [Texte imprimé et/ou numérique] / Nagwa A. MEGUID, Auteur ; Ola M. EID, Auteur ; Mona REDA, Auteur ; Dina Y. ELALFY, Auteur ; Fatma HUSSEIN, Auteur . - p.101558. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 75 (July 2020) . - p.101558 Mots-clés : Autism  Copy number variations  SHANK3  Sensory profiles  MLPA Index. décimale : PER Périodiques Résumé : Background Current estimates indicate that >80 % of children with autism spectrum disorder (ASD) exhibit concomitant sensory processing problems and hyper- or hypo-reactivity to sensory input. These are now included as diagnostic criteria for ASD in the Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition. Chromosomal rearrangements, copy number variations (CNVs), and coding sequence variants involving >100 genes have been identified in patients with ASD. Studying the CNVs of one such gene, SHANK3, and the associated phenotype in patients with ASD could provide insights that will guide future ASD treatments and interventions. Objective To assess SHANK3 CNVs in children with ASD and investigate their sensory processing patterns using the Short Sensory Profile (SSP). Subjects and methods Forty children with ASD were assessed using the Autism Diagnostic Interview-Revised. SSP was used to evaluate atypical sensory behavior, e.g., hyper- or hypo-reactivity to sensory input or unusual sensory interests. SHANK3 CNVs were assessed in these children using Multiplex Ligation-dependent Probe Amplification. Results Of the 40 cases, 77.5 % showed sensory reactivity symptoms. The greatest difference from normality was observed in the under-responsive/seeks sensation domain, followed by the tactile sensitivity domain, whereas hypo-activity (low-energy/weak domain) was closest to normal. The sensory reactivity symptoms were significantly correlated with the severity of ASD. However, only three of the 40 cases had de novo duplications at 22q13.33. The duplications included SHANK3 in two of the cases and only the distal flanking region of SHANK3 in the third case. All three duplication cases also showed symptoms associated with the low-energy/weak domain. Conclusion We found that children with ASD exhibited sensory processing problems. The SHANK3 copy number gains found demonstrate the gene dosage effect of SHANK3 in ASD pathogenesis. This study adds to the growing understanding of 22q13 duplications that include SHANK3. En ligne : https://doi.org/10.1016/j.rasd.2020.101558 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426

The Link between Genetic Abnormalities in the Monogenic Disorders and the Behavioral Phenotype of Polygenic Disorders Has Yet To Be Addressed in Research / Nagwa A. MEGUID in Autism - Open Access, 2-1 (March 2012)  

Public ISBD [article]  inAutism - Open Access > 2-1 (March 2012) . - 2 p. Titre : The Link between Genetic Abnormalities in the Monogenic Disorders and the Behavioral Phenotype of Polygenic Disorders Has Yet To Be Addressed in Research Type de document : Texte imprimé et/ou numérique Auteurs : Nagwa A. MEGUID, Auteur Année de publication : 2012 Article en page(s) : 2 p. Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.4172/2165-7890.1000e103 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] The Link between Genetic Abnormalities in the Monogenic Disorders and the Behavioral Phenotype of Polygenic Disorders Has Yet To Be Addressed in Research [Texte imprimé et/ou numérique] / Nagwa A. MEGUID, Auteur . - 2012 . - 2 p. Langues : Anglais (eng) in Autism - Open Access > 2-1 (March 2012) . - 2 p. Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.4172/2165-7890.1000e103 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

The neuroanatomy of the autistic phenotype / Cherine FAHIM in Research in Autism Spectrum Disorders, 6-2 (April-June 2012)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 6-2 (April-June 2012) . - p.898-906 Titre : The neuroanatomy of the autistic phenotype Type de document : Texte imprimé et/ou numérique Auteurs : Cherine FAHIM, Auteur ; Nagwa A. MEGUID, Auteur ; Neveen H. NASHAAT, Auteur ; Uicheul YOON, Auteur ; Adham MANCINI-MARIE, Auteur ; Alan C. EVANS, Auteur Année de publication : 2012 Article en page(s) : p.898-906 Langues : Anglais (eng) Mots-clés : Autism  Fragile X syndrome  Williams syndrome  Gray matter  White matter  Neuroimaging Index. décimale : PER Périodiques Résumé : The autism phenotype is associated with an excess of brain volume due in part to decreased pruning during development. Here we aimed at assessing brain volume early in development to further elucidate previous findings in autism and determine whether this pattern is restricted to idiopathic autism or shared within the autistic phenotype (fragile X syndrome [FXS]). We investigated brain volume in 37 participants, using the fully automated Civet pipeline anatomical magnetic resonance imaging. 3 groups with intellectual deficiency: autism (AUT); its most associated FXS; and its most opposite Williams syndrome (WS) were compared with each other and with normal controls (NC). We report increased total and regional gray and white matter brain volume in AUT and FXS relative to WS and NC. These findings are discussed in light of the possibilities leading for the enlarged brain volume in children with the AUT phenotype. We speculate that this excess suggests reduced regression of neuronal processes “pruning” in cortical and subcortical regions in AUT/FXS, which may be due to a mutation in specific genes involved in pruning and/or a lack of socio-emotional environmental experience during a critical developmental period. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.11.008 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150 [article] The neuroanatomy of the autistic phenotype [Texte imprimé et/ou numérique] / Cherine FAHIM, Auteur ; Nagwa A. MEGUID, Auteur ; Neveen H. NASHAAT, Auteur ; Uicheul YOON, Auteur ; Adham MANCINI-MARIE, Auteur ; Alan C. EVANS, Auteur . - 2012 . - p.898-906. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 6-2 (April-June 2012) . - p.898-906 Mots-clés : Autism  Fragile X syndrome  Williams syndrome  Gray matter  White matter  Neuroimaging Index. décimale : PER Périodiques Résumé : The autism phenotype is associated with an excess of brain volume due in part to decreased pruning during development. Here we aimed at assessing brain volume early in development to further elucidate previous findings in autism and determine whether this pattern is restricted to idiopathic autism or shared within the autistic phenotype (fragile X syndrome [FXS]). We investigated brain volume in 37 participants, using the fully automated Civet pipeline anatomical magnetic resonance imaging. 3 groups with intellectual deficiency: autism (AUT); its most associated FXS; and its most opposite Williams syndrome (WS) were compared with each other and with normal controls (NC). We report increased total and regional gray and white matter brain volume in AUT and FXS relative to WS and NC. These findings are discussed in light of the possibilities leading for the enlarged brain volume in children with the AUT phenotype. We speculate that this excess suggests reduced regression of neuronal processes “pruning” in cortical and subcortical regions in AUT/FXS, which may be due to a mutation in specific genes involved in pruning and/or a lack of socio-emotional environmental experience during a critical developmental period. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.11.008 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150

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