Background: This study reports the experiences of developing and pre-testing an Easy Read version of the Adult Social Care Outcomes Toolkit (ASCOT) for self-report by people with intellectual disabilities.
Methods: The study has combined survey development and pre-testing methods with approaches to create accessible information for people with intellectual disabilities. A working group assisted researchers in identifying appropriate question formats, pictures and wording. Focus groups and cognitive interviews were conducted to test various iterations of the instrument.
Results: Substantial changes were made to the questionnaire, which included changes to illustrations, the wording of question stems and response options.
Conclusions: The process demonstrated the benefits of involving people with intellectual disabilities in the design and testing of data collection instruments. Adequately adapted questionnaires can be useful tools to collect information from people with intellectual disabilities in survey research; however, its limitations must be recognized.
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http://dx.doi.org/10.1111/jar.12294 | DOI Listing |
Down syndrome, resulting from trisomy of human chromosome 21, is a common form of chromosomal disorder that results in intellectual disability and altered risk of several medical conditions. Individuals with Down syndrome have a greatly increased risk of Alzheimer's disease (DSAD), due to the presence of the APP gene on chromosome 21 that encodes the amyloid-β precursor protein (APP). APP can be processed to generate amyloid-β, which accumulates in plaques in the brains of people who have Alzheimer's disease and is the upstream trigger of disease.
View Article and Find Full Text PDFJ Investig Med High Impact Case Rep
January 2025
Faculty of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, Palestine.
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).
View Article and Find Full Text PDFAnn Med
December 2025
Health Research and Innovatioin Science Centre, Klaipeda University, Klaipeda, Lithuania.
Background: Handgrip strength (HGS) serves as a robust predictor of overall strength across various populations, including individuals with Down Syndrome (DS).
Objective: To analyze the HGS measurement protocols used in studies involving individuals with DS.
Methods: Primary sources were sourced from six databases: PubMed, Scopus, Ovid, Embase, ERIC, and Web of Science, spanning from inception to 23rd December 2023.
Pain Rep
February 2025
Department of Ophthalmology, Harvard Medical School, Schepens Eye Research Institute of Massachusetts Eye and Ear, Boston, MA, USA.
Introduction: Ocular pain is a common complaint to eye care providers, associated with a variety of ocular conditions, among which dry eye disease (DED) is affecting millions of people worldwide. Despite being highly prevalent, ocular pain is not managed adequately in the clinic.
Objectives: The aim of this study was to investigate the analgesic potential of neurokinin-1 receptor (NK1R) antagonism in DED.
Sci Rep
January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
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