Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
3 recherche sur le mot-clé 'Autism Spectrum Disorder/genetics/physiopathology'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders / E. LARSEN in Molecular Autism, 7 (2016)
[article]
Titre : A systematic variant annotation approach for ranking genes associated with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : E. LARSEN, Auteur ; I. MENASHE, Auteur ; M. N. ZIATS, Auteur ; W. PEREANU, Auteur ; A. PACKER, Auteur ; Sharmila BANERJEE-BASU, Auteur Article en page(s) : 44p. Langues : Anglais (eng) Mots-clés : Algorithms Autism Spectrum Disorder/genetics/physiopathology DNA-Binding Proteins/genetics Databases, Genetic Datasets as Topic Gene Expression Genetic Predisposition to Disease Genetic Variation Homeodomain Proteins/genetics Humans Molecular Sequence Annotation Nerve Tissue Proteins/genetics Research Design Transcription Factors/genetics Autistic disorder Autosomal recessive Common variants Genetic variation Rare variants Index. décimale : PER Périodiques Résumé : BACKGROUND: The search for genetic factors underlying autism spectrum disorders (ASD) has led to the identification of hundreds of genes containing thousands of variants that differ in mode of inheritance, effect size, frequency, and function. A major challenge involves assessing the collective evidence in an unbiased, systematic manner for their functional relevance. METHODS: Here, we describe a scoring algorithm for prioritization of candidate genes based on the cumulative strength of evidence for each ASD-associated variant cataloged in AutDB (also known as SFARI Gene). We retrieved data from 889 publications to generate a dataset of 2187 rare and 711 common variants distributed across 461 genes implicated in ASD. Each individual variant was manually annotated with multiple attributes extracted from the original report, followed by score assignment using a set of standardized parameters yielding a single score for each gene. RESULTS: There was a wide variation in scores; SHANK3, CHD8, and ADNP had distinctly higher scores than all other genes in the dataset. Our gene scores were significantly correlated with other recently published rankings of ASD genes (RSpearman = 0.40-0.63; p< 0.0001), providing support for our scoring algorithm. CONCLUSIONS: This new resource, which is freely available, for the first time aggregates on one-platform variants identified from various study types (simplex, multiplex, multigenerational, and consanguineous families), from both common and rare variants, and also incorporates their putative functional consequences to arrive at a genetically and biologically driven ranking scheme. This work represents a major step in moving from simply cataloging autism variants to using data-driven approaches to gain insight into their significance. En ligne : http://dx.doi.org/10.1186/s13229-016-0103-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 44p.[article] A systematic variant annotation approach for ranking genes associated with autism spectrum disorders [Texte imprimé et/ou numérique] / E. LARSEN, Auteur ; I. MENASHE, Auteur ; M. N. ZIATS, Auteur ; W. PEREANU, Auteur ; A. PACKER, Auteur ; Sharmila BANERJEE-BASU, Auteur . - 44p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 44p.
Mots-clés : Algorithms Autism Spectrum Disorder/genetics/physiopathology DNA-Binding Proteins/genetics Databases, Genetic Datasets as Topic Gene Expression Genetic Predisposition to Disease Genetic Variation Homeodomain Proteins/genetics Humans Molecular Sequence Annotation Nerve Tissue Proteins/genetics Research Design Transcription Factors/genetics Autistic disorder Autosomal recessive Common variants Genetic variation Rare variants Index. décimale : PER Périodiques Résumé : BACKGROUND: The search for genetic factors underlying autism spectrum disorders (ASD) has led to the identification of hundreds of genes containing thousands of variants that differ in mode of inheritance, effect size, frequency, and function. A major challenge involves assessing the collective evidence in an unbiased, systematic manner for their functional relevance. METHODS: Here, we describe a scoring algorithm for prioritization of candidate genes based on the cumulative strength of evidence for each ASD-associated variant cataloged in AutDB (also known as SFARI Gene). We retrieved data from 889 publications to generate a dataset of 2187 rare and 711 common variants distributed across 461 genes implicated in ASD. Each individual variant was manually annotated with multiple attributes extracted from the original report, followed by score assignment using a set of standardized parameters yielding a single score for each gene. RESULTS: There was a wide variation in scores; SHANK3, CHD8, and ADNP had distinctly higher scores than all other genes in the dataset. Our gene scores were significantly correlated with other recently published rankings of ASD genes (RSpearman = 0.40-0.63; p< 0.0001), providing support for our scoring algorithm. CONCLUSIONS: This new resource, which is freely available, for the first time aggregates on one-platform variants identified from various study types (simplex, multiplex, multigenerational, and consanguineous families), from both common and rare variants, and also incorporates their putative functional consequences to arrive at a genetically and biologically driven ranking scheme. This work represents a major step in moving from simply cataloging autism variants to using data-driven approaches to gain insight into their significance. En ligne : http://dx.doi.org/10.1186/s13229-016-0103-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD / A. GANDHI in Journal of Autism and Developmental Disorders, 51-6 (June 2021)
[article]
Titre : Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD Type de document : Texte imprimé et/ou numérique Auteurs : A. GANDHI, Auteur ; D. ZHOU, Auteur ; J. ALAIMO, Auteur ; E. CHON, Auteur ; M. D. FOUNTAIN, Auteur ; S. H. ELSEA, Auteur Article en page(s) : p.1852-1865 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics/physiopathology Child Child, Preschool DNA-Binding Proteins Facies Female Humans Hyperventilation/genetics/physiopathology Intellectual Disability/genetics/physiopathology Male Neurodevelopmental Disorders/genetics/physiopathology Sleep/genetics Sleep Wake Disorders/genetics/psychology Smith-Magenis Syndrome/genetics/physiopathology Autism spectrum disorder MBD5-associated neurodevelopmental disorder Neurodevelopmental disorder Pitt–Hopkins syndrome Sleep disturbance Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865[article] Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD [Texte imprimé et/ou numérique] / A. GANDHI, Auteur ; D. ZHOU, Auteur ; J. ALAIMO, Auteur ; E. CHON, Auteur ; M. D. FOUNTAIN, Auteur ; S. H. ELSEA, Auteur . - p.1852-1865.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865
Mots-clés : Autism Spectrum Disorder/genetics/physiopathology Child Child, Preschool DNA-Binding Proteins Facies Female Humans Hyperventilation/genetics/physiopathology Intellectual Disability/genetics/physiopathology Male Neurodevelopmental Disorders/genetics/physiopathology Sleep/genetics Sleep Wake Disorders/genetics/psychology Smith-Magenis Syndrome/genetics/physiopathology Autism spectrum disorder MBD5-associated neurodevelopmental disorder Neurodevelopmental disorder Pitt–Hopkins syndrome Sleep disturbance Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 Effect of co-twin gender on neurodevelopmental symptoms: a twin register study / J. M. ERIKSSON in Molecular Autism, 7 (2016)
[article]
Titre : Effect of co-twin gender on neurodevelopmental symptoms: a twin register study Type de document : Texte imprimé et/ou numérique Auteurs : J. M. ERIKSSON, Auteur ; S. LUNDSTRÖM, Auteur ; P. LICHTENSTEIN, Auteur ; Susanne BEJEROT, Auteur ; E. ERIKSSON, Auteur Article en page(s) : 8p. Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics/physiopathology Autism Spectrum Disorder/genetics/physiopathology Child Comorbidity Diseases in Twins Female Follow-Up Studies Gender Identity Humans Interview, Psychological Male Neurodevelopmental Disorders/genetics/physiopathology Parents Pregnancy Prenatal Exposure Delayed Effects Sex Characteristics Stereotyped Behavior Sweden/epidemiology Testosterone/physiology Tic Disorders/genetics/physiopathology Twins, Dizygotic/psychology Asperger syndrome Attention-deficit hyperactivity disorders Autistic disorder Symptom assessment Twin study Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders thought to have both genetic and environmental causes. It has been hypothesized that exposure to elevated levels of prenatal testosterone is associated with elevated traits of ASD and ADHD. Assuming that testosterone levels from a dizygotic male twin fetus may lead to enhanced testosterone exposure of its co-twins, we aimed to test the prenatal testosterone hypothesis by comparing same-sex with opposite-sex dizygotic twins with respect to neurodevelopmental symptoms. METHODS: Neuropsychiatric traits were assessed in a population-based twin cohort from the Child and Adolescent Twin Study in Sweden (CATSS). Parental interviews were conducted for 16,312 dizygotic twins, 9 and 12 years old, with the Autism-Tics, ADHD, and other Comorbidities inventory (A-TAC). RESULTS: Girls with a female co-twin had an increased risk of reaching the cut-off score for ADHD compared with girls with a male co-twin. Both boys and girls with a female co-twin displayed a larger number of traits related to attention deficit and repetitive and stereotyped behaviors than those with a male twin. In girls, this also extended to social interaction and the combined measures for ASD and ADHD, however, with small effect sizes. CONCLUSIONS: Our results are reverse to what would have been expected from the prenatal testosterone hypothesis but consistent with a previous study of ASD and ADHD traits in dizygotic twins. The seemingly protective effect for girls of having a twin brother may be an effect of parent report bias, but may also be an unexpected effect of sharing the intrauterine environment with a male co-twin. En ligne : http://dx.doi.org/10.1186/s13229-016-0074-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 8p.[article] Effect of co-twin gender on neurodevelopmental symptoms: a twin register study [Texte imprimé et/ou numérique] / J. M. ERIKSSON, Auteur ; S. LUNDSTRÖM, Auteur ; P. LICHTENSTEIN, Auteur ; Susanne BEJEROT, Auteur ; E. ERIKSSON, Auteur . - 8p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 8p.
Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics/physiopathology Autism Spectrum Disorder/genetics/physiopathology Child Comorbidity Diseases in Twins Female Follow-Up Studies Gender Identity Humans Interview, Psychological Male Neurodevelopmental Disorders/genetics/physiopathology Parents Pregnancy Prenatal Exposure Delayed Effects Sex Characteristics Stereotyped Behavior Sweden/epidemiology Testosterone/physiology Tic Disorders/genetics/physiopathology Twins, Dizygotic/psychology Asperger syndrome Attention-deficit hyperactivity disorders Autistic disorder Symptom assessment Twin study Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders thought to have both genetic and environmental causes. It has been hypothesized that exposure to elevated levels of prenatal testosterone is associated with elevated traits of ASD and ADHD. Assuming that testosterone levels from a dizygotic male twin fetus may lead to enhanced testosterone exposure of its co-twins, we aimed to test the prenatal testosterone hypothesis by comparing same-sex with opposite-sex dizygotic twins with respect to neurodevelopmental symptoms. METHODS: Neuropsychiatric traits were assessed in a population-based twin cohort from the Child and Adolescent Twin Study in Sweden (CATSS). Parental interviews were conducted for 16,312 dizygotic twins, 9 and 12 years old, with the Autism-Tics, ADHD, and other Comorbidities inventory (A-TAC). RESULTS: Girls with a female co-twin had an increased risk of reaching the cut-off score for ADHD compared with girls with a male co-twin. Both boys and girls with a female co-twin displayed a larger number of traits related to attention deficit and repetitive and stereotyped behaviors than those with a male twin. In girls, this also extended to social interaction and the combined measures for ASD and ADHD, however, with small effect sizes. CONCLUSIONS: Our results are reverse to what would have been expected from the prenatal testosterone hypothesis but consistent with a previous study of ASD and ADHD traits in dizygotic twins. The seemingly protective effect for girls of having a twin brother may be an effect of parent report bias, but may also be an unexpected effect of sharing the intrauterine environment with a male co-twin. En ligne : http://dx.doi.org/10.1186/s13229-016-0074-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328