Publications by authors named "R Waltes"
Article Synopsis
- De novo variants contribute significantly to neurodevelopmental disorders (NDDs), but due to their rarity, understanding the full range of symptoms and genetic variations linked to specific genes like KDM6B poses a challenge.
- The study of 85 individuals with KDM6B variants reveals that cognitive deficits are common, while features like coarse facies and skeletal issues are rare, indicating that existing descriptions may be misleading.
- Through innovative testing methods and studies on Drosophila, the researchers highlight the critical role of KDM6B in cognitive function and the importance of international collaboration for accurate diagnosis of rare disorders.
Article Synopsis
- Protein truncating variants in genes like ATM and BRCA1 are linked to higher breast cancer risk, but the risks of missense variants remain unclear.
- A study involving over 59,000 breast cancer cases analyzed the impact of rare missense variants across several genes using advanced prediction techniques and statistical models.
- The analysis indicated that some missense variants in genes like ATM and BRCA1 could carry risks similar to truncating variants, while CHEK2 showed a different risk profile, and PALB2 variants had minimal association with breast cancer risk.
Conduct Disorder (CD) is an impairing psychiatric disorder of childhood and adolescence characterized by aggressive and dissocial behavior. Environmental factors such as maternal smoking during pregnancy, socio-economic status, trauma, or early life stress are associated with CD. Although the number of females with CD is rising in Western societies, CD is under-researched in female cohorts.
View Article and Find Full Text PDFBoth selective mutism (SM) and social anxiety disorder (SAD) are severe pediatric anxiety disorders with the common trait of behavioral inhibition (BI). The underlying pathophysiology of these disorders remains poorly understood, however converging evidence suggests that alterations in several peripheral molecular pathways might be involved. In a pilot study, we investigated alterations in plasma molecular markers (dipeptidyl peptidase-4 [DPPIV], interleukin-6 [IL-6], tumor necrosis factor-β [TNF-β] and neuropeptide-Y [NPY]) in children with SM, SAD, and healthy controls, as well as the correlation of these markers to symptom severity.
View Article and Find Full Text PDF[Genetic risk factors and their influence on neural development in autism spectrum disorders].
Z Kinder Jugendpsychiatr Psychother
May 2021
Genetic risk factors and their influence on neural development in autism spectrum disorders Abstract. Autism spectrum disorders are etiologically based on genetic and specific gene x biologically relevant environmental risk factors. They are diagnosed based on behavioral characteristics, such as impaired social communication and stereotyped, repetitive behavior and sensory as well as special interests.
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