Vincent-Raphaël Bourque
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View article: Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children
Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children Open
Importance Although early signs of autism are often observed between 18 and 36 months of age, there is considerable uncertainty regarding future development. Clinicians lack predictive tools to identify those who will later be diagnosed wi…
View article: Common genetic variants are associated with increased likelihood of some co-occurring mental health conditions among autistic individuals
Common genetic variants are associated with increased likelihood of some co-occurring mental health conditions among autistic individuals Open
IMPORTANCE Autism frequently co-occurs with other mental health conditions. In the general population, these co-occurring mental health conditions are highly heritable and genetically correlated; however, the genetic architecture of co-occ…
View article: Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children
Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children Open
Although the first signs of autism are often observed as early as 18-36 months of age, there is a broad uncertainty regarding future development, and clinicians lack predictive tools to identify those who will later be diagnosed with co-oc…
View article: Modelling Co-Occurring Mental Health Conditions Among Autistic Individuals Using Polygenic Scores
Modelling Co-Occurring Mental Health Conditions Among Autistic Individuals Using Polygenic Scores Open
Aims This study investigated the relationship between common genetic variation and co-occurring mental health conditions among autistic individuals. Methods The study was conducted with the Simons Foundation Powering Autism Research (SPARK…
View article: Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability
Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability Open
Introduction Rare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer susceptibility for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle…
View article: Effect of co-occurring conditions on the pediatric manifestations of catatonia: systematic analysis of individual patient data
Effect of co-occurring conditions on the pediatric manifestations of catatonia: systematic analysis of individual patient data Open
Importance: Catatonia is a rare psychomotor syndrome, of which three main subtypes are described, "excited", "retarded" and "malignant". Its diagnosis is challenging in pediatric patients, due to its multitude of presentations, and the ove…
View article: Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability
Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability Open
Rare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer risk for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle the effects of these t…
View article: Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach
Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach Open
Compared to disorders of similar heritability and contribution of common variants, few genome-wide significant loci have been implicated in autism spectrum disorder (ASD). This undermines the use of polygenic risk scores (PRSs) to investig…