Principles and mechanisms of neurobehavioral teratogenesis are used to show commonalities between manifestations of abnormal development consequent to genetic abnormality or teratogenic exposure. A comparison and contrast of both the neuropathological and neuropsychological characteristics of children with early embryonic exposure to isotretinoin (Accutane) or with selected mental retardation syndromes is presented. Putative mechanisms of retinoid teratogenesis through the disruption of normal retinoid-triggered embryogenesis and the alteration of homeobox gene expression are discussed. Interference with homeobox gene expression as an avenue to the perturbation of early developmental processes and the production of hindbrain and craniofacial abnormalities is then proposed as a common basis for the translation and expression of several genetic mental retardation syndromes. Finally, dose-response effects and other modulators of vulnerability to abnormal development are used to provide a conceptual framework for the understanding of variability in the expression of genetically caused abnormalities.
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http://dx.doi.org/10.1016/s0091-3057(96)00284-5 | DOI Listing |
BMC Oral Health
January 2025
Université Paris Cité, Laboratory URP 2496 Orofacial Pathologies, Imaging, and Biotherapies, Faculty of odontology, Montrouge, France.
Background: Down syndrome (DS) is a genetic condition that involves the deregulation of immune function and is characterized by a proinflammatory phenotype leading to an impaired response to infections. Periodontitis is a highly prevalent chronic inflammatory disease. It has been shown that adults and teenagers with DS are more susceptible to this disease, but a similar correlation in DS children remains elusive.
View Article and Find Full Text PDFTransl Vis Sci Technol
January 2025
The Ohio State University College of Optometry, Columbus, OH, USA.
Purpose: Individuals with Down syndrome (DS) have reduced visual acuity (VA), even when wearing refractive correction. The relationship between refractive error and VA in adults with DS is explored.
Methods: Thirty adults with DS (age = 29 ± 10 years) were enrolled in a trial comparing clinical and objectively determined refractions.
Front Pediatr
January 2025
Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in the or genes, leading to dysregulation of the mTOR pathway and multisystemic manifestations. Epilepsy is a common neurologic feature of TSC, frequently accompanied by neuropsychiatric comorbidities. Understanding the relationship between epilepsy severity, TSC-associated neuropsychiatric disorders (TAND), and cognitive outcomes is crucial for optimizing patient care.
View Article and Find Full Text PDFPsychiatr Psychol Law
January 2024
Regional Forensic Psychiatric Services (Mason Clinic/Te Whatu Ora), Auckland, New Zealand.
There is considerable variability in fitness to stand trial (FST) findings between assessors, which may potentially influence the courts' decisions for defendants with intellectual disability (ID). This study aims to determine the influence of the defendant's intelligence quotient (IQ) score and the assessor's professional discipline on FST findings and court outcomes for ID defendants in Aotearoa New Zealand. This study included 146 defendants with ID who were assessed between 2005 and 2015.
View Article and Find Full Text PDFCureus
December 2024
Department of Anesthesiology, Aichi Gakuin University, Nagoya, JPN.
Sotos syndrome is a genetic disorder characterized by distinct facial features, intellectual disability, and overgrowth. In this case, a patient with Sotos syndrome presented with severe intellectual disability, for which general anesthesia was initially considered. However, at the request of the patient's guardian, the treatment was performed under intravenous sedation.
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