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Neurodevelopmental abnormalities associated with HIV infection have been described since the first reports of pediatric AIDS in the 1980s. Before antiretroviral therapy (ART) became widely available, progressive HIV-1 encephalopathy (PHE) was reported in the US in 13-35% of children with HIV-1 infection and in 35-50% of children with AIDS. Introduction of ART can prevent PHE and reverse PHE present at ART initiation, but a high prevalence of residual problems has been described. Even though 90% of HIV-infected children live in the developing world, few children have access to ART and little is known regarding the neurological manifestations of perinatal HIV infection in those regions. Mechanisms of pediatric HIV-1 neuropathogenesis and factors associated with neurodevelopmental abnormalities in perinatally infected children are not yet fully understood. Studies have demonstrated that HIV-1 enters the CNS soon after infection and may persist in this compartment over the entire course of HIV-1 infection. The CNS is a distinct viral reservoir, differing from peripheral compartments in target cells and antiretroviral penetration. Neurotropic HIV-1 likely develops distinct genotypic characteristics in response to this unique environment. We reviewed the literature on pediatric neuroAIDS and identified gaps in the current knowledge.
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http://dx.doi.org/10.1016/j.ejpn.2006.10.006 | DOI Listing |
Medicine (Baltimore)
September 2025
Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong Province, China.
Rationale: Weaver syndrome is a rare congenital overgrowth disorder characterized by a wide spectrum of clinical manifestations that often overlap with other overgrowth syndromes. It is primarily caused by pathogenic variants in the Enhancer of Zeste Homolog 2 (EZH2) gene on chromosome 7q36.1.
View Article and Find Full Text PDFArq Neuropsiquiatr
September 2025
Universidade de São Paulo, Faculdade de Medicina, Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, São Paulo SP, Brazil.
Williams syndrome (WS) is a genetic, multisystemic, and neurodevelopmental disorder. The prevalence of auditory hypersensitivity in WS is high, especially in childhood, with reports in the literature from 94 to 100% of individuals evaluated, which can generate significant impacts on their quality of life. Therefore, the existence of instruments for screening hyperacusis that are easy and quick to apply for use in clinical routine is essential.
View Article and Find Full Text PDFFront Hum Neurosci
August 2025
Signal Processing Laboratory (LTS5), École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland.
Introduction: Absence of language development is a condition encountered across a large range of neurodevelopmental disorders, including a significant proportion of children with autism spectrum disorder. The neurobiological underpinnings of non-verbal ASD (nvASD) remain poorly understood.
Methods: This study employed multimodal MRI to investigate white matter (WM) microstructural abnormalities in nvASD, focusing on language-related pathways.
Front Pediatr
August 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Selenocysteine insertion sequence-binding protein 2 () is crucial for the biosynthesis of selenoproteins, including iodothyronine deiodinases, which play a vital role in thyroid hormone metabolism. Mutations in can disrupt thyroid function, leading to various clinical manifestations across multiple systems. We present the case of a 3-year-old Saudi female who was referred for genetic testing due to poor growth, developmental abnormalities, and notable facial dysmorphism.
View Article and Find Full Text PDFFront Biosci (Landmark Ed)
August 2025
Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, 200011 Shanghai, China.
Preeclampsia (PE) is a serious complication of pregnancy characterized by chronic inflammation and immune dysregulation, which significantly increases the risk of neurodevelopmental disorders in offspring, including the autism spectrum disorder (ASD). This review investigated the potential mechanisms linking PE to ASD, with a particular focus on the role of microglial abnormalities. Epidemiological studies have revealed that prenatal exposure to PE raised the risk of ASD, with affected offspring showing increased odds ratios.
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