Health in Down syndrome: creating a conceptual model.

BACKGROUND: Down syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social and mental well-being. METHODS: In 2021, we presented our proposed conceptual model to three expert panels, four focus groups of parents of individuals with DS age 0-21 years and four focus groups of individuals with DS age 13-21 years through videoconferencing technology. Participants gave feedback and discussed the concept of health in DS. RESULTS: Feedback from participants resulted in iterative refinement of our model, retaining the three dimensions of health, and modifying constructs within those dimensions. Experts and parents agreed that individuals with DS have unique health concerns that necessitate the creation and validation of a syndrome-specific health model. We present key themes that we identified and a final conceptual model of health for individuals with DS. CONCLUSION: Health in DS is a multi-dimensional, multi-construct model focused on relevant constructs of causal and effect indicators. This conceptual model can be used in future research to develop a syndrome-specific measure of health status.

The house is a machine for everything: the role of the built environment in group homes during the COVID-19 pandemic.

OBJECTIVES: Individuals living in group homes during the COVID-19 pandemic faced unique challenges and health risks related to living in shared spaces. This study aimed to assess the experiences of living and working in a group home during the pandemic and to explore the role of the built environment. STUDY DESIGN AND METHODS: We conducted longitudinal working groups with group home residents with intellectual and developmental disabilities and serious mental illness, group home staff, and families/caregivers of residents from December 2020 through December 2022. Common themes highlighting ways in which group home residents, staff, and caregivers perceived the built environment to impact living in a group home during the COVID-19 pandemic were identified. RESULTS: Resonant themes centered around increased risk of COVID-19 infection, ad hoc spatial adaptations for infection control, space-related challenges due to isolation and quarantine requirements, and limited access to public spaces. CONCLUSION: Group home residents and staff experienced multiple health and wellness challenges during the COVID-19 pandemic related to their surrounding built environment. Mechanisms to engage group home residents in modifications of their built environment may improve the effectiveness of infection control policies while acknowledging individual autonomy.

ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal DNA fragments from maternal circulation in sufficient quantity and sizes, together with proprietary bioinformatics tools, now allows patients the option of noninvasive fetal aneuploidy screening. However, obstetric care providers must become familiar with the advantages and disadvantages of the utilization of this approach as analysis of cell-free fetal DNA moves into clinical practice. Once informed, clinicians can provide efficient pretest and posttest counseling with the goal of avoiding patient harm. It is in the public's best interest that test results contain key elements and that laboratories adhere to established quality control and proficiency testing standards. The analysis of cell-free fetal DNA in maternal circulation for fetal aneuploidy screening is likely the first of major steps toward the eventual application of whole fetal genome/whole fetal exome sequencing.

Storybook-based communication intervention for girls with Rett syndrome and their mothers.

PURPOSE: Storybook reading provides a natural language learning context in which to support early symbolic communication. In this study, we explored the impact of (1) resting hand splints, (2) light tech augmentative communication systems such as voice-output devices and symbols, and (3) very basic parent training on the symbolic communication and labelling behaviours of six girls with Rett syndrome. METHOD: Mothers and daughters were videotaped as they read familiar and unfamiliar storybooks in their homes. RESULTS: Group and individual data collected from the six girls indicated that they became more active and successful participants in the interactions during storybook reading. The girls employed a wider range of communication modes and increased the frequency of their labelling. Familiar storybook reading encouraged greater symbolic communication than unfamiliar storybooks in half the girls. CONCLUSION: This study suggests that motivated parents may not require expensive technologies or lengthy training in order to enhance their children's early communication and participation in storybook reading.