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Anne Marie Higgins - One of the best experts on this subject based on the ideXlab platform.
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comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome 22q11 ds with and without Autism
American Journal of Medical Genetics Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Wanda Fremont, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5–15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype–phenotype associations in Autism. © 2007 Wiley-Liss, Inc.
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Comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome (22q11 DS) with and without Autism.
American journal of medical genetics. Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Wanda P Fremont, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5-15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype-phenotype associations in Autism.
Wendy R Kates - One of the best experts on this subject based on the ideXlab platform.
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a genetic first approach to dissecting the heterogeneity of Autism phenotypic comparison of Autism risk copy number variants
European Neuropsychopharmacology, 2019Co-Authors: Samuel J R A Chawner, Wendy R Kates, Joanne L Doherty, Hayley Moss, Carrie E Bearden, Wendy K Chung, Sarah Curran, Jeremy Hall, Sebastien Jacquemont, Jacob A S VorstmanAbstract:Background Autism is a heterogeneous condition and there is growing evidence that different features are dissociable and may be underpinned by different risk factors. Several Autism risk copy number variants (CNVs) have been identified. It remains unclear whether these CNVs differentially impact Autism presentation. This study aimed to contrast Autism symptomatology and the clinical profile of different Autism risk CNVs. Methods Patients were recruited at several international sites based on genotype, not Autism phenotype. This work represents the efforts of several consortia; the ECHO study, IMAGINE-ID consortium, International 22q11.2DS Brain Behaviour Consortium, 16p11.2 European Consortium and Simons VIP. Patients were all assessed using the Autism Diagnostic Interview-Revised (ADI-R) and underwent IQ testing. We focused on 16p11.2 deletion (n=96), 16p11.2 duplication (n=47), 22q11.2 deletion (n=383) and 22q11.2 duplication (n=22) carriers. Patients were aged 4–27 years. We examined Autism prevalence based on ADI-R criteria, ADI-R domain scores, whether carriers with Autism had additional IQ deficits and Autism male-to-female ratio. Results Autism prevalence differed by syndrome (p Discussion Autism risk genetic variants have specific genotype-phenotype correlations. This indicates that Autism is dissociable at the genetic level, and supports the view that different biological pathways underpin distinct symptom domains.
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comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome 22q11 ds with and without Autism
American Journal of Medical Genetics Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Wanda Fremont, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5–15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype–phenotype associations in Autism. © 2007 Wiley-Liss, Inc.
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Comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome (22q11 DS) with and without Autism.
American journal of medical genetics. Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Wanda P Fremont, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5-15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype-phenotype associations in Autism.
C S Allely - One of the best experts on this subject based on the ideXlab platform.
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The role of cholesterol metabolism and various steroid abnormalities in Autism spectrum disorders: A hypothesis paper.
Autism research : official journal of the International Society for Autism Research, 2017Co-Authors: Christopher Gillberg, Elisabeth Fernell, Eva Kocovska, Helen Minnis, Thomas Bourgeron, Lucy Thompson, C S AllelyAbstract:Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the "Autisms" [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as "steroid metabolism" and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in Autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD.
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the role of cholesterol metabolism and various steroid abnormalities in Autism spectrum disorders a hypothesis paper
Autism Research, 2017Co-Authors: Christopher Gillberg, Elisabeth Fernell, Eva Kocovska, Helen Minnis, Thomas Bourgeron, Lucy Thompson, C S AllelyAbstract:Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the “Autisms” [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as “steroid metabolism” and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in Autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD. Autism Res 2017. © 2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research. Autism Res 2017, 10: 1022–1044. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Leslie Strunge - One of the best experts on this subject based on the ideXlab platform.
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comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome 22q11 ds with and without Autism
American Journal of Medical Genetics Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Wanda Fremont, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5–15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype–phenotype associations in Autism. © 2007 Wiley-Liss, Inc.
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Comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome (22q11 DS) with and without Autism.
American journal of medical genetics. Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Wanda P Fremont, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5-15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype-phenotype associations in Autism.
Kevin M Antshel - One of the best experts on this subject based on the ideXlab platform.
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comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome 22q11 ds with and without Autism
American Journal of Medical Genetics Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Wanda Fremont, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5–15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype–phenotype associations in Autism. © 2007 Wiley-Liss, Inc.
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Comparing phenotypes in patients with idiopathic Autism to patients with velocardiofacial syndrome (22q11 DS) with and without Autism.
American journal of medical genetics. Part A, 2007Co-Authors: Wendy R Kates, Kevin M Antshel, Robert J Shprintzen, Leslie Strunge, Courtney P Burnette, Wanda P Fremont, Anne Marie HigginsAbstract:At least three research groups have reported that Autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with Autism and those with idiopathic Autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of Autism in samples of children with either (VCFS) or idiopathic Autism. Five groups of children ages 5-15 were included in the between-group design. Parent report of Autism behaviors (based on the Autism Diagnostic Interview-Revised, ADI-R) were compared between children with VCFS, children with VCFS and Autism (VCFS + Autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic Autism. Autism diagnoses were based according to the ADI-R. Parental responses to the ADI-R indicated that relative to children with VCFS-only, children with idiopathic Autism and children with VCFS + Autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core Autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an Autism diagnosis. Accordingly, the Autism phenotype in VCFS differs to some extent from that of idiopathic Autism. Several features of idiopathic Autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of Autism. These findings carry implications for clinicians who diagnose and treat VCFS or Autism, and for researchers who study genotype-phenotype associations in Autism.
