Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study / Heval M. OZGEN in Journal of Autism and Developmental Disorders, 41-1 (January 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-1 (January 2011) . - p.23-31 Titre : Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study Type de document : Texte imprimé et/ou numérique Auteurs : Heval M. OZGEN, Auteur ; Gerhard S. HELLEMAN, Auteur ; Rebecca K. STELLATO, Auteur ; Bertine LAHUIS, Auteur ; Emma VAN DAALEN, Auteur ; Wouter G. STAAL, Auteur ; Marije ROZENDAL, Auteur ; Raoul C. HENNEKAM, Auteur ; Frits A. BEEMER, Auteur ; Herman VAN ENGELAND, Auteur Année de publication : 2011 Article en page(s) : p.23-31 Langues : Anglais (eng) Mots-clés : Minor anomalies  Common variants  Dysmorphology  Heterogeneity  Etiology  Biological marker Index. décimale : PER Périodiques Résumé : This study was designed to examine morphological features in a large group of children with autism spectrum disorder versus normal controls. Amongst 421 patients and 1,007 controls, 224 matched pairs were created. Prevalence rates and odds ratios were analyzed by conditional regression analysis, McNemar test or paired t-test matched pairs. Morphological abnormalities were significantly more prevalent in patients with autism than in the normal control group and 48 morphological features distinguished patients from controls. Our findings show that morphological features are associated with autism. Exploring potential underlying genetic mechanisms of this association might lead to a better understanding of autism. En ligne : http://dx.doi.org/10.1007/s10803-010-1018-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114 [article] Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study [Texte imprimé et/ou numérique] / Heval M. OZGEN, Auteur ; Gerhard S. HELLEMAN, Auteur ; Rebecca K. STELLATO, Auteur ; Bertine LAHUIS, Auteur ; Emma VAN DAALEN, Auteur ; Wouter G. STAAL, Auteur ; Marije ROZENDAL, Auteur ; Raoul C. HENNEKAM, Auteur ; Frits A. BEEMER, Auteur ; Herman VAN ENGELAND, Auteur . - 2011 . - p.23-31. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-1 (January 2011) . - p.23-31 Mots-clés : Minor anomalies  Common variants  Dysmorphology  Heterogeneity  Etiology  Biological marker Index. décimale : PER Périodiques Résumé : This study was designed to examine morphological features in a large group of children with autism spectrum disorder versus normal controls. Amongst 421 patients and 1,007 controls, 224 matched pairs were created. Prevalence rates and odds ratios were analyzed by conditional regression analysis, McNemar test or paired t-test matched pairs. Morphological abnormalities were significantly more prevalent in patients with autism than in the normal control group and 48 morphological features distinguished patients from controls. Our findings show that morphological features are associated with autism. Exploring potential underlying genetic mechanisms of this association might lead to a better understanding of autism. En ligne : http://dx.doi.org/10.1007/s10803-010-1018-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114

A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation / Heval M. OZGEN in Journal of Autism and Developmental Disorders, 39-2 (February 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-2 (February 2009) . - p.322-329 Titre : A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation Type de document : Texte imprimé et/ou numérique Auteurs : Heval M. OZGEN, Auteur ; Maretha V. DE JONGE, Auteur ; Wouter G. STAAL, Auteur ; John C. BARBER, Auteur ; Marc J. ELEVELD, Auteur ; Frits A. BEEMER, Auteur ; Ron HOCHSTENBACH, Auteur ; Martin POOT, Auteur Année de publication : 2009 Article en page(s) : p.322-329 Langues : Anglais (eng) Mots-clés : Autism-spectrum-disorder Array-comparative-genomic-hybridization Developmental-delay Fluorescent-in-situ-hybridization Self-mutilation STMN4 DPYSL2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient. En ligne : http://dx.doi.org/10.1007/s10803-008-0627-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=684 [article] A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation [Texte imprimé et/ou numérique] / Heval M. OZGEN, Auteur ; Maretha V. DE JONGE, Auteur ; Wouter G. STAAL, Auteur ; John C. BARBER, Auteur ; Marc J. ELEVELD, Auteur ; Frits A. BEEMER, Auteur ; Ron HOCHSTENBACH, Auteur ; Martin POOT, Auteur . - 2009 . - p.322-329. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-2 (February 2009) . - p.322-329 Mots-clés : Autism-spectrum-disorder Array-comparative-genomic-hybridization Developmental-delay Fluorescent-in-situ-hybridization Self-mutilation STMN4 DPYSL2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient. En ligne : http://dx.doi.org/10.1007/s10803-008-0627-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=684

Predictive Value of Morphological Features in Patients with Autism versus Normal Controls / Heval M. OZGEN in Journal of Autism and Developmental Disorders, 43-1 (January 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.147-155 Titre : Predictive Value of Morphological Features in Patients with Autism versus Normal Controls Type de document : Texte imprimé et/ou numérique Auteurs : Heval M. OZGEN, Auteur ; Gerhard S. HELLEMANN, Auteur ; M. V. JONGE, Auteur ; Frits A. BEEMER, Auteur ; Herman VAN ENGELAND, Auteur Article en page(s) : p.147-155 Langues : Anglais (eng) Mots-clés : Autism  Common variant  Endophenotype  Morphology  Minor anomaly  Predictive value  ROC  Recursive partitioning Index. décimale : PER Périodiques Résumé : We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features. En ligne : http://dx.doi.org/10.1007/s10803-012-1554-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] Predictive Value of Morphological Features in Patients with Autism versus Normal Controls [Texte imprimé et/ou numérique] / Heval M. OZGEN, Auteur ; Gerhard S. HELLEMANN, Auteur ; M. V. JONGE, Auteur ; Frits A. BEEMER, Auteur ; Herman VAN ENGELAND, Auteur . - p.147-155. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.147-155 Mots-clés : Autism  Common variant  Endophenotype  Morphology  Minor anomaly  Predictive value  ROC  Recursive partitioning Index. décimale : PER Périodiques Résumé : We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features. En ligne : http://dx.doi.org/10.1007/s10803-012-1554-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

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