[article] 
inDevelopment and Psychopathology > 32-4 (October 2020) . - p.1353-1361

Titre :	Transcriptional subtyping explains phenotypic variability in genetic subtypes of autism spectrum disorder
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Sandy TRINH, Auteur ; Anne B. ARNETT, Auteur ; Evangeline KURTZ-NELSON, Auteur ; Jennifer BEIGHLEY, Auteur ; Marta PICOTO, Auteur ; Raphael BERNIER, Auteur
Article en page(s) :	p.1353-1361
Langues :	Anglais (eng)
Mots-clés :	autism  genetics  mutation  organization or entity with any financial interest in the outcome of this project.
Index. décimale :	PER Périodiques
Résumé :	Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by deficits in social communication and presence of restricted, repetitive behaviors, and interests. However, individuals with ASD vary significantly in their challenges and abilities in these and other developmental domains. Gene discovery in ASD has accelerated in the past decade, and genetic subtyping has yielded preliminary evidence of utility in parsing phenotypic heterogeneity through genomic subtypes. Recent advances in transcriptomics have provided additional dimensions with which to refine genetic subtyping efforts. In the current study, we investigate phenotypic differences among transcriptional subtypes defined by neurobiological spatiotemporal co-expression patterns. Of the four transcriptional subtypes examined, participants with mutations to genes typically expressed highly in all brain regions prenatally, and those with differential postnatal cerebellar expression relative to other brain regions, showed lower cognitive and adaptive skills, higher severity of social communication deficits, and later acquisition of speech and motor milestones, compared to those with mutations to genes highly expressed during the postnatal period across brain regions. These findings suggest higher-order characterization of genetic subtypes based on neurobiological expression patterns may be a promising approach to parsing phenotypic heterogeneity among those with ASD and related neurodevelopmental disorders.
En ligne :	http://dx.doi.org/10.1017/s0954579420000784
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433

[article] Transcriptional subtyping explains phenotypic variability in genetic subtypes of autism spectrum disorder [Texte imprimé et/ou numérique] / Sandy TRINH, Auteur ; Anne B. ARNETT, Auteur ; Evangeline KURTZ-NELSON, Auteur ; Jennifer BEIGHLEY, Auteur ; Marta PICOTO, Auteur ; Raphael BERNIER, Auteur . - p.1353-1361.
Langues : Anglais (eng)
in Development and Psychopathology > 32-4 (October 2020) . - p.1353-1361

Mots-clés :	autism  genetics  mutation  organization or entity with any financial interest in the outcome of this project.
Index. décimale :	PER Périodiques
Résumé :	Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by deficits in social communication and presence of restricted, repetitive behaviors, and interests. However, individuals with ASD vary significantly in their challenges and abilities in these and other developmental domains. Gene discovery in ASD has accelerated in the past decade, and genetic subtyping has yielded preliminary evidence of utility in parsing phenotypic heterogeneity through genomic subtypes. Recent advances in transcriptomics have provided additional dimensions with which to refine genetic subtyping efforts. In the current study, we investigate phenotypic differences among transcriptional subtypes defined by neurobiological spatiotemporal co-expression patterns. Of the four transcriptional subtypes examined, participants with mutations to genes typically expressed highly in all brain regions prenatally, and those with differential postnatal cerebellar expression relative to other brain regions, showed lower cognitive and adaptive skills, higher severity of social communication deficits, and later acquisition of speech and motor milestones, compared to those with mutations to genes highly expressed during the postnatal period across brain regions. These findings suggest higher-order characterization of genetic subtypes based on neurobiological expression patterns may be a promising approach to parsing phenotypic heterogeneity among those with ASD and related neurodevelopmental disorders.
En ligne :	http://dx.doi.org/10.1017/s0954579420000784
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433