The demand for transplantable solid organs far exceeds the supply of deceased donor organs. Patient selection criteria are determined by individual transplant programs; given the scarcity of solid organs for transplant, allocation to those most likely to benefit takes into consideration both medical and psychosocial factors. Children with intellectual and developmental disabilities have historically been excluded as potential recipients of organ transplants. When a transplant is likely to provide significant health benefits, denying a transplant to otherwise eligible children with disabilities may constitute illegal and unjustified discrimination. Children with intellectual and developmental disabilities should not be excluded from the potential pool of recipients and should be referred for evaluation as recipients of solid organ transplants.
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http://dx.doi.org/10.1542/peds.2020-0625 | DOI Listing |
Dev Med Child Neurol
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
Int Med Case Rep J
January 2025
Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.
Introduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. The Epsilon-Trimethyllysine Hydroxylase () gene encodes the enzyme N-Trimethyllysine hydroxylase (TMLH) which catalyses the first step in the biosynthesis of carnitine. Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872).
View Article and Find Full Text PDFDrug Saf
January 2025
Department of Public Health Pharmacy and Management, Sefako Makgatho Health Sciences University, Pretoria, South Africa.
Introduction: The COVID-19 pandemic accelerated new vaccine development. Limited safety data necessitated robust global safety surveillance to accurately identify and promptly communicate potential safety issues. The African Union Smart Safety Surveillance (AU-3S) program established the Joint Signal Management (JSM) group to support identification of potential vaccine safety concerns in five pilot countries (Ethiopia, Ghana, Kenya, Nigeria, South Africa), accounting for approximately 35% of the African population.
View Article and Find Full Text PDFPediatr Res
January 2025
Laboratorio de Bacteriología Experimental. Instituto Nacional de Pediatría, Mexico City, México.
Background: Congenital hypothyroidism's sequelae include visuomotor and intellectual developmental deficits. Visual-motor perception is a cognitive function related to academic performance. Intellect is the ability to learn and use acquired knowledge to solve and achieve goals.
View Article and Find Full Text PDFHum Pathol
January 2025
Département de Biopathologie CHRU-ICL, CHRU Nancy, Vandoeuvre-lès-Nancy, France; INSERM, U1256, NGERE - University of Lorraine, Vandoeuvre-lès-Nancy, France. Electronic address:
Neuroblastoma is a common childhood tumor originating from neural crest progenitors with variable clinical behavior. Despite improved overall survival, factors such as stage, histoprognosis, MYCN status, and age still influence outcome. MCM6 regulates DNA replication and contributes to cancer progression.
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