Publications by authors named "Emma von Scheibler"
Article Synopsis
- The study investigated the prevalence of obesity and metabolic syndrome (MetS) in 103 adults with a specific genetic condition (microdeletion 22q11.2), finding significantly higher rates of both compared to the general population.* -
- Among the participants, 32% had generalized obesity, 51.5% had abdominal obesity, and 33% had MetS, with these numbers contrasting sharply with population-based statistics.* -
- Age was identified as a key factor influencing obesity and MetS outcomes, with older age correlating positively with higher BMI and waist circumference, particularly in individuals not using antipsychotic medications.*
Background: 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive impairments and an increased risk of psychopathology.
View Article and Find Full Text PDFCopy number variant risk loci for schizophrenia converge on the BDNF pathway.
World J Biol Psychiatry
April 2024
Objectives: Schizophrenia genetics is intricate, with common and rare variants' contributions not fully understood. Certain copy number variations (CNVs) elevate risk, pivotal for understanding mental disorder models. Despite CNVs' genome-wide distribution and variable gene and protein effects, we must explore beyond affected genes to interaction partners and molecular pathways.
View Article and Find Full Text PDFPrevious studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.
View Article and Find Full Text PDFBackground: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms.
Methods: A systematic literature review was conducted in PubMed and Embase on June 15, 2021.
22q11.2 deletion syndrome (22q11.2DS) is associated with an elevated genetic risk of several psychiatric disorders.
View Article and Find Full Text PDFThe 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births.
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