Practicalities (and real-life experiences) of dementia in adults with Down syndrome.

Adults with down syndrome (DS) have a lifetime dementia risk in excess of 95%, with a median age of onset of 55 years, due to trisomy 21. Co-occurring Alzheimer's disease (AD) has increased morbidity and mortality, and it is now recommended to screen for AD in all adults with DS beginning at 40 years of age. In this manuscript, we present two clinical cases of adults with DS who developed AD summarizing their medical histories, presenting symptoms, path to diagnosis and psychosocial aspects of care collected from retrospective chart review with caregiver consent. These two cases were chosen due to their complexity and interwoven nature of the medical and psychosocial aspects, and highlight the complexity and nuance of caring for patients with DS and AD.

Brief report: Physical activity assessment and counseling in adults with Down syndrome.

Adults with Down syndrome are at an increased risk for developing certain medical conditions, which can be further exacerbated by lower levels of physical activity. Physician counseling can provide a supportive environment to encourage modes of physical activity accessible to patients and caregivers. While some adults with Down syndrome have access to a Down syndrome specialty clinic, most are followed only by a primary care physician. This report includes adult patients with Down syndrome followed at a Down syndrome specialty clinic in Boston and compares physical activity assessment and counseling rates by Down syndrome specialists and primary care physicians. Patients were more likely to have physical activity assessment and counseling performed by a Down syndrome specialist than by a primary care physician. A better understanding of the barriers primary care physicians caring for adults with Down syndrome experience related to physical activity counseling could help improve important health habit counseling in this high-risk population.

The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome.

The Pediatric Integrated Care Survey (PICS) is validated for use to measure the caregiver reported experience of integration and efficiency of all the aspects of their child. We began using the PICS survey to track changes in the patient experience, including throughout changing models of care during the COVID-19 pandemic. From February 2019 to June 2023, 62 responses from caregivers of individuals seen in the Massachusetts General Hospital Down Syndrome Program completed the PICS. Responses were scored using the standardized PICS user manual, and descriptive statistics were completed. The raw scores and composite monthly scores of the PICs were graphed in statistical process control charts. The average PICS score was 12.0 (range 2-19) out of a maximum score of 19; no shifts or trends were seen. Items with lowest scores indicated greatest opportunities for improvement related to: advice from other care team members, impact of decisions on the whole family, things causing stress or making it hard because of child's health, and offering opportunities to connect with other families. Studying the PICS in a specialty clinic for Down syndrome for the first time has established a baseline for future quality improvement work and interventions to increase care integration.

Sustainability of personal social networks of people with Down syndrome.

Research continues to demonstrate that the characteristics of one's social network could have an impact on the development of Alzheimer's disease. Given the predisposition of people with Down syndrome to develop Alzheimer's disease, analysis of their social networks has become an emerging focus. Previous pilot research demonstrated that the personal networks of people with DS could be quantitatively analyzed, with no difference between self-report and parent-proxy report. This manuscript focuses on a 12-month follow-up period with the same original participants (24 adults with Down syndrome). Their social networks demonstrated sustainability, but not improvement, as reported by people with DS (mean network size: 8.88; mean density: 0.73; mean constraint: 0.44; mean effective size: 3.58; mean max degree: 6.04; mean degree: 4.78) and their proxies (mean network size: 7.90; mean density: 0.82; mean constraint: 53.13; mean effective size: 2.87; mean max degree: 5.19; mean degree: 4.30). Intentional and continued efforts are likely needed in order to improve the social network measures of people with Down syndrome.

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic.

Down syndrome (DS) and other genetic conditions have been reported to co-occur in the same person. This study sought to examine the genetic evaluation beyond chromosome analysis of individuals with DS at one DS specialty clinic. Retrospective chart review of genetic testing performed beyond chromosome analysis, the indication for the genetic testing, and the result of the genetic testing from the electronic health record was performed. Demographic information was collected and summary statistics, including mean and frequency, were calculated. The charts of 637 individuals with DS were reviewed. Overall, 146 genetic tests in addition to routine chromosome analysis were performed on 92 individuals with DS. Tests included chromosomal microarray, gene panels, and whole exome sequencing. Tests were performed for the indication of: autism spectrum disorder, celiac disease, dementia, hematologic diseases, and others. Eleven individuals with DS were found to have a second genetic diagnosis. Individuals with DS in one multidisciplinary clinic for DS had a variety of genetic tests beyond chromosomes completed, for varied indications, and with some abnormal results leading to additional diagnoses. Additional genetic testing beyond chromosome analysis is a reasonable consideration for patients with DS who have features suggestive of a secondary diagnosis.