A groundbreaking study led by researchers at Penn State has found that evaluating parents for the manifestation of traits related to neurodevelopmental and psychiatric disorders can significantly improve the accuracy of predicting the prevalence and severity of these disorders in their children. This new approach proves to be more effective than solely screening for genetic variants.
Neurodevelopmental and psychiatric disorders like autism, schizophrenia, depression, and anxiety are influenced by multiple genetic and environmental factors, making it challenging to predict their trajectory. However, by considering the traits exhibited by parents related to these disorders, researchers have discovered a better method for prediction.
The study, published in the American Journal of Human Genetics, emphasizes the importance of understanding the contribution of both parents to their child’s diagnosis. This knowledge could greatly benefit genetic counseling and the development of intervention plans for affected children.
The research team analyzed a large set of families, consisting of 97,000 individuals, including children with neurodevelopmental disorders such as autism and intellectual disability. They evaluated the impact of risk factors, both genetic features and parental traits, on the disease trajectory in these children. The datasets used for the study included genetic information and questionnaire data from a public biobank and specific studies on neurodevelopmental disorders.
By assessing symptoms and known genetic mutations associated with these disorders, the researchers found that parents often select partners with the same or related disorders. Consequently, this leads to an increased prevalence and potential severity of the disorder in their children.
“Most neurodevelopmental disorders are genetically complex, meaning that they aren’t caused by a single gene,” explained Santhosh Girirajan, lead author of the paper and Interim Department Head and T. Ming Chu Professor of Biochemistry and Molecular Biology at Penn State Eberly College of Science. “This makes it hard to trace the exact genetic underpinnings of a disorder in an individual and even harder to predict how the disorder will play out in affected children.”
The complexity of these genetic diseases arises from mutations in multiple genes, which can be inherited from one or both parents or occur spontaneously in the child’s genome. The child’s prognosis is determined by the combination of mutations inherited and their interactions during development, referred to as the multi-hit model.
The findings highlight the significance of considering both genetic variants and parental traits when predicting neurodevelopmental and psychiatric disorders. By gaining a better understanding of how parental traits contribute to the child’s diagnosis, healthcare professionals can provide more informed genetic counseling and develop personalized therapeutic intervention plans. This research brings us one step closer to improving the lives of children affected by these disorders and their families.
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1. Source: Coherent Market Insights, Public sources, Desk research
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