Mutat Res Genet Toxicol Environ Mutagen
October 2023
Error-corrected duplex sequencing (DS) enables direct quantification of low-frequency mutations and offers tremendous potential for chemical mutagenicity assessment. We investigated the utility of DS to quantify induced mutation frequency (MF) and spectrum in human lymphoblastoid TK6 cells exposed to a prototypical DNA alkylating agent, N-ethyl-N-nitrosourea (ENU). Furthermore, we explored appropriate experimental parameters for this application, and assessed inter-laboratory reproducibility.
View Article and Find Full Text PDFImportance: People with intellectual and developmental disabilities (IDD) express a clear interest in intimate relationships but face many barriers to receiving sex education (SE) that would support their engagement in these relationships.
Objective: To understand barriers to, the context of, and recommendations for SE for people with IDD.
Design: Qualitative study design with interviews and focus groups with four key stakeholder groups.
Nucleic Acids Res
November 2021
Mutations in mitochondrial DNA (mtDNA) cause maternally inherited diseases, while somatic mutations are linked to common diseases of aging. Although mtDNA mutations impact health, the processes that give rise to them are under considerable debate. To investigate the mechanism by which de novo mutations arise, we analyzed the distribution of naturally occurring somatic mutations across the mouse and human mtDNA obtained by Duplex Sequencing.
View Article and Find Full Text PDFBackground: People with disabilities and chronic health conditions rely on a range of services and supports to complete daily tasks, maintain health, and participate in the community. Preliminary research suggests the COVID-19 pandemic greatly disrupted these services and this population may be particularly susceptible to unemployment.
Objective: Describe employment and service disruptions for individuals with disabilities and chronic health conditions during the onset of community-based spread of COVID-19 in the United States.
Autism Adulthood
March 2021
Unlabelled: Activities of daily living (ADLs) are activities that people engage in on a routine basis, such as brushing their teeth, preparing a meal, and caring for their child. Independence with ADLs is associated with better outcomes in independent living, education, employment, relationships, and mental health. Therefore, this perspective piece includes a review of the literature and assessment databases to identify and summarize ADL assessments for Autistic adults.
View Article and Find Full Text PDFBackground: Individuals with intellectual and developmental disabilities demonstrate disparities in sexual and reproductive health (SRH) compared to individuals without disabilities (e.g., lack of sexual education and knowledge, increased rates of abuse, unplanned pregnancies and sexually transmitted infections).
View Article and Find Full Text PDFSexual and reproductive health is an important aspect of human development, but discussions with adolescents and young adults on this topic are often challenging for health-care providers. As a result, many adolescents and young adults do not receive appropriate, comprehensive sexual education, despite recognition from WHO and the UN that access to this education is a human right. Adolescents and young adults with mild to moderate intellectual or developmental disability, or both, are just as likely to be sexually active as are their peers without disability; however, these individuals are less likely to receive comprehensive sexual education.
View Article and Find Full Text PDFOTJR (Thorofare N J)
January 2020
Self-advocacy is a client's ability to represent one's interests when managing disease or disability. Self-advocacy may increase one's ability to seek, evaluate, and use information to promote health, yet little is known about the role of occupational therapy in promoting self-advocacy. This scoping review aims to identify interventions within occupational therapists' scope of practice to improve self-advocacy.
View Article and Find Full Text PDFIndividuals with intellectual and developmental disabilities (I/DD) may have an increased risk of sexually transmitted infections (STIs) due to limited sexual health education and higher rates of sexual abuse, yet little is known about the prevalence of STIs and STI testing in this population. This study compared national samples of privately insured individuals with (n = 25,193) and without I/DD (n = 25,193) on the prevalence of STIs and STI testing. In multivariable models, individuals with I/DD were significantly less likely to have an STI diagnosis and no difference was found between groups on the odds of STI testing overall.
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