The importance of (inherited) genetic impact in reading development is well established. De novo mutation is another important contributor that is recently gathering interest as a major liability of neurodevelopmental disorders, but has been neglected in reading research to date. Paternal age at childbirth (PatAGE) is known as the most prominent risk factor for de novo mutation, which has been repeatedly shown by molecular genetic studies. As one of the first efforts, we performed a preliminary investigation of the relationship between PatAGE, offspring's reading, and brain structure in a longitudinal neuroimaging study following 51 children from kindergarten through third grade. The results showed that greater PatAGE was significantly associated with worse reading, explaining an additional 9.5% of the variance after controlling for a number of confounds-including familial factors and cognitive-linguistic reading precursors. Moreover, this effect was mediated by volumetric maturation of the left posterior thalamus from ages 5 to 8. Complementary analyses indicated the PatAGE-related thalamic region was most likely located in the pulvinar nuclei and related to the dorsal attention network by using brain atlases, public datasets, and offspring's diffusion imaging data. Altogether, these findings provide novel insights into neurocognitive mechanisms underlying the PatAGE effect on reading acquisition during its earliest phase and suggest promising areas of future research.
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http://dx.doi.org/10.1002/hbm.25567 | DOI Listing |
Nature
January 2025
deCODE genetics/Amgen Inc., Reykjavik, Iceland.
Human recombination maps are a valuable resource for association and linkage studies and crucial for many inferences of population history and natural selection. Existing maps are based solely on cross-over (CO) recombination, omitting non-cross-overs (NCOs)-the more common form of recombination-owing to the difficulty in detecting them. Using whole-genome sequence data in families, we estimate the number of NCOs transmitted from parent to offspring and derive complete, sex-specific recombination maps including both NCOs and COs.
View Article and Find Full Text PDFNature
January 2025
Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Female mammalian cells have two X chromosomes, one of maternal origin and one of paternal origin. During development, one X chromosome randomly becomes inactivated. This renders either the maternal X (X) chromosome or the paternal X (X) chromosome inactive, causing X mosaicism that varies between female individuals, with some showing considerable or complete skew of the X chromosome that remains active.
View Article and Find Full Text PDFCompr Psychiatry
January 2025
School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Academic Unit of Child Psychiatry, Liverpool Hospital, Liverpool, NSW, Australia; Ingham Institute of Applied Medical Research and Liverpool Hospital, Sydney, NSW, Australia. Electronic address:
While previous research has examined perinatal factors in the context of Autism Spectrum Disorder (ASD), studies focusing on sociocultural factors is limited. We conducted a cross-sectional analysis utilizing data from the Australian Autism Biobank (AAB), which encompasses autistic children aged 2-17, their siblings, parents, and unrelated controls. Employing multivariable regression analyses, we aimed to identify factors associated with ASD across various domains, spanning health and lifestyle, perinatal, and postnatal contexts.
View Article and Find Full Text PDFBMC Public Health
January 2025
Faculty of Science and Humanities, School of Postgraduate Studies and Research (SPGSR), Amoud University, Borama, Somaliland.
Background: Diarrheal diseases remain a critical public health challenge, particularly for children under five in low- and middle-income countries such as Somalia. This study aimed to assess the prevalence and determinants of diarrhea in this vulnerable population, utilizing data from the 2020 Somalia Demographic and Health Survey.
Methods: This investigation employed secondary data from the 2020 Somalia Demographic and Health Survey.
Spec Care Dentist
January 2025
Department of Prosthetic Dental Sciences, College of Dentistry, Qassim University, Qassim, Saudi Arabia.
Aims: To evaluate the impact of anthropometric and sociodemographic factors on dental caries and gingival health among children with special healthcare needs (SHCN).
Methods And Results: This cross-sectional study involved 108 children, aged 4-14 years, with congenital heart disease, childhood cancer, bleeding disorders, various syndromes, and multiple conditions. Caregivers completed a sociodemographic questionnaire, and children underwent dental examinations to assess caries, gingival health, and oral hygiene.
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