Progress in addressing the origins of intellectual and developmental disabilities accelerated with the establishment 50 years ago of the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health and associated Intellectual and Developmental Disabilities Research Centers. Investigators at these Centers have made seminal contributions to understanding human brain and behavioral development and defining mechanisms and treatments of disorders of the developing brain. ANN NEUROL 2019;86:332-343.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320680 | PMC |
| http://dx.doi.org/10.1002/ana.25531 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Slovenian Nursing Students' Perspectives and Experiences with Nursing Care of People with Intellectual and Developmental Disabilities: A Qualitative Descriptive Study.
Healthcare (Basel)
January 2025
Division of Nursing, Faculty of Health Sciences, University of Ljubljana, 1000 Ljubljana, Slovenia.
Providing nursing care for individuals with intellectual and developmental disabilities can be challenging for nursing students, often perceived as stressful, demanding, and, at times, unpleasant. This study aimed to describe the experiences of students in their interactions and provision of nursing care for people with intellectual and developmental disabilities. : A qualitative descriptive study was conducted.
View Article and Find Full Text PDFPrevention of sexual assault in intellectual disability (ID) begins with defining the problem. There are identified risk factors and barriers faced by adults with ID who experience sexual assault. Research shows that individuals with ID are victimized by sexual assault at rates substantially higher than the general population.
View Article and Find Full Text PDFCase report: Kabuki syndrome and persistent hypoglycemia in neonates.
J Family Med Prim Care
December 2024
Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities.
View Article and Find Full Text PDFPlace of death and healthcare utilisation at the end of life among individuals with mental and behavioural disorders as underlying cause of death: population-level multiple-register study.
BJPsych Open
January 2025
Institute of Health and Care Sciences, and Centre for Person-centred Care (GPCC) Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Background: Understanding the place of death for individuals with mental and behavioural disorders (MBDs) is essential for identifying disparities in healthcare access and outcomes, as well as addressing broader health inequities within this population.
Aims: To examine the place of death among individuals in Sweden with the underlying cause of death reported as a MBD and compare variations between diagnostic groups, as well as explore associations between place of death and individual, sociodemographic and clinical factors.
Method: This population-level analysis used death certificate data (gender, age, underlying cause of death and place of death) recorded between 2013 and 2019 and other national register data.
Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!