The genetics of neurodevelopmental disorders have long intrigued clinicians and researchers alike. In this case report, we report a rare case of neurodevelopmental disorders associated with icthyosis with an underlying SHOX (short stature homeobox) gene mutation.
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http://dx.doi.org/10.1016/j.ajp.2017.03.003 | DOI Listing |
Pediatr Res
January 2025
Center for Genetic Medicine, Children's National Research Institute, Washington, DC, USA.
Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Bio and Brain Engineering, KAIST, Daejeon, 34141, Republic of Korea.
Autism spectrum disorder (ASD) affects up to 1 in 59 children, and is one of the most common neurodevelopmental disorders. Recent genomic studies have highlighted the role of rare variants in ASD. This study aimed to identify genes affected by rare variants shared by siblings with ASD and validate the function of a candidate gene FRRS1L.
View Article and Find Full Text PDFJ Neurosci
January 2025
Arizona State University, Department of Psychology, Tempe, AZ, 85287 USA.
The cerebellum, identified to be active during cognitive and social behavior, has multisynaptic connections through the cerebellar nuclei (CN) and thalamus to cortical regions, yet formation and modulation of these pathways are not fully understood. Perineuronal nets (PNNs) respond to changes in local cellular activity and emerge during development. PNNs are implicated in learning and neurodevelopmental disorders, but their role in the CN during development is unknown.
View Article and Find Full Text PDFBMJ Open
January 2025
Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
Objectives: This study aimed to explore the ethical challenges faced by healthcare professionals (HCPs) in managing children and adolescents with neurodevelopmental disorders (NDDs) in Lebanon. The primary research question addressed how HCPs navigate ethical dilemmas related to patient autonomy, surrogate decision-making and communication in the context of severe cognitive impairments.
Design: Qualitative, cross-sectional study using semi-structured interviews.
Sleep Med
December 2024
Developmental and Social Psychology, Sapienza University of Rome, Rome, Italy.
Introduction: Sleep concerns have become increasingly common over the past few decades. This study outlines the perceived needs and gaps in pediatric sleep education, drawing insights from a diverse international cohort of pediatric sleep health professionals.
Methods: International Pediatric Sleep Association (IPSA) members were invited to complete an online survey examining a variety of topics related to pediatric sleep education developed by the education committee.
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