Publications by authors named "J A S Vorstman"

Background: The 22q11.2 deletion syndrome (22q11DS) is associated with a variety of neuropsychiatric outcomes that vary across deletion carriers. We adopted a dimensional approach to provide a comprehensive overview of neuropsychiatric symptom expression in adolescents with 22q11DS and further our understanding of the observed phenotypical heterogeneity.

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Article Synopsis
  • - The study investigates the genetic relationship between Adolescent Idiopathic Scoliosis (AIS) and Schizophrenia (SCZ), particularly focusing on the 22q11.2 deletion syndrome, which greatly increases the risk for both conditions in adolescents.
  • - Researchers utilized data from three genome-wide association studies (GWAS) to analyze single nucleotide polymorphisms (SNPs) linked to both AIS and SCZ, while also examining gene networks related to the 22q11.2 region.
  • - Findings showed a significant genetic overlap between AIS and SCZ, with the most impactful SNPs forming a meaningful enrichment cluster, indicating a potential shared biological pathway.
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The role of genetic testing in the domain of neurodevelopmental and psychiatric disorders (NPDs) is gradually changing from providing etiological explanation for the presence of NPD phenotypes to also identifying young individuals at high risk of developing NPDs before their clinical manifestation. In clinical practice, the latter implies a shift towards the availability of individual genetic information predicting a certain liability to develop an NPD (e.g.

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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-occurring intellectual disability (ID). Here, we developed predictive models of ID in autistic children (n=5,633 from three cohorts), integrating different classes of genetic variants alongside developmental milestones. The integrated model yielded an AUC ROC=0.

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: Social competence is a domain in which pediatric brain tumour survivors (PBTS) are at risk of challenges. To follow-up on our earlier work, in this study we assessed specific social interaction behaviors and emotional functioning in PBTS relative to typically developing youth (TD). The study coincided with the onset of the global pandemic.

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