Results of inaugural international Down Syndrome Societal Services and Supports survey.

PURPOSE: We previously designed the Down Syndrome Societal Services and Supports Survey (DS-4S) to measure country-specific supports for people with Down syndrome (DS) across multiple life domains (healthcare, education, policy, independence, and community inclusion). We now report and analyze the results. METHODS: We partnered with international DS consortia, who distributed the DS-4S to 154 cumulative members representing over 100 countries. Organizations were included if they had a holistic focus on the lives of people with DS and if at least 50% of their members either have DS or are family members of people with DS. Factor analysis was used to analyze the results. RESULTS: We received survey responses from 55 different organizations in 50 countries who met inclusion criteria. Each country had complete data for at least 4 of the 5 domains. The lowest 5 scores were from countries in Africa and Asia; the highest 5 scores were in Europe and North America. CONCLUSION: The responses to the DS-4S stratified countries within each surveyed domain. The DS-4S can now be used to track countries' progress over time and to determine which countries have best practices that might be replicated. We will publish the results and update them biennially at www.DownSyndromeQualityOfLife.com.

Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds.

Down syndrome (DS) has a unique medical and psychological profile. To date, few studies have asked individuals with DS about their views of health, and fewer have explored the impact of COVID-19 on the health of individuals with DS and their families. We used a mixed methods approach including two studies on the health of individuals with DS and their parents conducted during the COVID-19 pandemic: (1) eight virtual focus groups, comprised of 20 parents and 8 individuals with DS to obtain participants' views of health, and (2) a 20-item questionnaire on health care experience of patients with DS who are African American or come from primarily Spanish-speaking homes. Focus group transcripts were coded using a hybrid inductive/deductive framework and thematically analyzed using the Framework Method. This questionnaire included questions regarding the impact of COVID-19 on caregivers and their loved ones with DS; responses to these questions were summarized using descriptive statistics. Individuals with DS discussed the impact of the COVID-19 pandemic on their physical and social health including masking, online learning, and online communication with friends and family. Parents of individuals with DS discussed how the COVID-19 pandemic negatively impacted their child's physical, social, and mental health, as a result of virtual schooling and decreased socialization. There were unexpected positives of the pandemic such as improved hygiene and eased scheduling with telehealth visits. Caregivers noted COVID-19 impacted their own anxiety, employment, and other domains that have potential ripple effects on the health of their children. The COVID-19 pandemic had a pervasive impact on the mental health and wellness of caregivers as well as the physical, social, and mental health of individuals with DS.

Global health measures from a National Down Syndrome Registry.

People with Down syndrome (DS) have a unique medical profile which may impact views of health. We aimed to study the use of global health measures for DS in a national cohort. We prospectively surveyed parents of individuals with DS from the DS-Connect® registry with validated Patient Reported Outcomes Measurement Information System (PROMIS)® instruments of global health. Analyses included use of scoring manuals and the PROMIS® scoring service, descriptive statistics, and t-tests. We received completed surveys from 223 parents of individuals with DS; previously published limitations of the instrument in this population were shown again. T-scores differed from the available comparative standardized scores to these measures from PROMIS® reference population on Fatigue (p < 0.001) and Global Health (p < 0.001), but not on Pain Interference (p = 0.41).

Designing an international survey for organisations serving people with Down syndrome.

BACKGROUND: Down syndrome is the most common liveborn genetic condition. However, there are no surveys measuring societal services and supports for people with Down syndrome. We developed a questionnaire so that initiatives could be targeted towards countries most in need of assistance. METHOD: We formed a geographically diverse group of physicians, family members of people with Down syndrome, and members of Down syndrome not-for-profit organisations to create a survey of societal services and supports. We used a modified Delphi method and disseminated the survey to Down syndrome non-profit organisations worldwide. RESULTS: Our survey consists of 61 items categorised within five domains: Education, Community Inclusion, Independence, Healthcare, and Social and Policy Issues. CONCLUSIONS: We developed a survey to measure societal services and supports available to people with Down syndrome as perceived by organisational leaders. Our methods might serve as a blueprint for other populations of people with intellectual and developmental disabilities.

Indicators of health in Down syndrome: A virtual focus group study with patients and their parents.

BACKGROUND: Down syndrome has a unique medical and psychological profile. To date, few studies have asked individuals with Down syndrome about their views of health. METHODS: Eight focus groups of 20 parents and 8 individuals with Down syndrome, were conducted virtually via videoconferencing to obtain participants' views of health indicators. Focus group moderators employed some modifications for individuals with Down syndrome, including simplified language and use of graphics. Transcripts were coded using a hybrid inductive/deductive framework and thematically analysed using the Framework Method. RESULTS: We describe lessons learned in conducting virtual focus groups of individuals with Down syndrome and their parents. Individuals with Down syndrome could describe their views of health indicators and identified many of the same topics as their parents. Both groups discussed physical, mental, and social health components. However, people with Down syndrome gave a more restricted range of examples, but with different nuances than parents. CONCLUSION: Partcipants discussed physical, social, and mental well-being components of health in Down syndrome. Interviewing individuals with Down syndrome in virtual focus groups with appropriate modifications added important self-report health information.

Personal social networks of people with Down syndrome.

Studies in the neurotypical population have demonstrated that personal social networks can mitigate cognitive decline and the development of Alzheimer disease. To assess whether these benefits can also be extended to people with Down syndrome (DS), we studied whether and how personal networks can be measured in this population. We adapted a personal networks instrument previously created, validated, and implemented for the neurotypical population. We created two versions of the survey: one for participants with DS, ages 25 and older, and another for their study partners, who spent a minimum of 10 h/wk in a caregiver role. Participants with DS gave concordant data to those of study partners. Their personal networks included a median network size of 7.50, density 0.80, constraint 46.00, and effective size 3.07. Personal networks were composed of 50% kin, 80% who live within 15 miles, and 80% who eat a healthy diet. In this proof-of-principle study, we demonstrated that the personal networks of people with DS can be quantitatively analyzed, with no statistical difference between self-report and parent-proxy report. Future research efforts can now evaluate interventions to enhance personal networks for preventing Alzheimer disease in this population.

Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.

Research to guide clinicians in the management of the devastating regression which can affect adolescents and young adults with Down syndrome is limited. A multi-site, international, longitudinal cohort of individuals with a clinical diagnosis of Unexplained Regression in Down syndrome (URDS) was collated through seven Down syndrome clinics. Tiered medical evaluation, a 28-item core symptom list, and interim management are described naturalistically. Improvement-defined by the percentage of baseline function on a Parent-reported Functional Score, overall improvement in symptoms on a Clinician-administered Functional Assessment, or report of management type being associated with improvement-was analyzed. Improvement rates using ECT, IVIG, and others were compared. Across seven clinics, 51 patients with URDS had regression at age 17.6 years, on average, and showed an average 14.1 out of 28 symptoms. Longitudinal improvement in function was achieved in many patients and the medical management, types of treatment, and their impact on function are described. Management with intravenous immunoglobulin (IVIG) was significantly associated with higher rate of improvement in symptoms at the next visit (p = 0.001). Our longitudinal data demonstrates that URDS is treatable, with various forms of clinical management and has a variable course. The data suggests that IVIG may be an effective treatment in some individuals. Our description of the management approaches used in this cohort lays the groundwork for future research, such as development of standardized objective outcome measure and creation of a clinical practice guideline for URDS.

Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome.

PURPOSE: Individuals with Down syndrome have an increased prevalence of various medical conditions across the lifespan; multidisciplinary Down syndrome specialty clinics can address these needs. However, the caregiver-perceived purpose of bringing their loved one to a Down syndrome specialty clinic has not been investigated. METHODS: Retrospective review of electronic intake forms, completed prior to visits at MGH's Down Syndrome Program, was completed. Caregiver concerns were coded and analyzed by visit type (new patient vs follow-up), age, gender, and race. RESULTS: Information from 722 unique patients (53.6% male) across 1,526 visits from 2014 to 2021 were reviewed resulting in 3,762 concerns. Caregivers of children with Down syndrome ages 0-4, and 13-39 reported a top concern of health maintenance which includes establishing patient care and preventative measures. Behavior was the top concern for caregivers of children with Down syndrome ages 5-12. For adults with Down syndrome, ages 40 years or older, neurologic considerations, including regression and dementia, was the top caregiver concern. Across the entire sample, the top three concerns did not vary by gender. CONCLUSION: The top concerns of caregivers of individuals with Down syndrome fluctuate across the lifespan. Growing multidisciplinary specialty clinics for Down syndrome may use these findings to ensure that caregivers' concerns are addressed and improve patient experience.

Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic.

Levels of independence vary in individuals with Down syndrome (DS). We began this study to describe the current life skills in our clinic population of children and adults with DS. We collected and reviewed demographics, living situation, and life skills from an electronic intake form used in clinic procedures. Descriptive statistics for this cohort study included mean, standard deviation, and frequencies. From 2014-2020, 350 pediatric and 196 adult patients (range 0-62 years) with a first visit to the Massachusetts General Hospital Down Syndrome Program are described. Pediatric patients were most often enrolled in school, and in an inclusion setting. Adult patients were most often participating in a day program, living with family, and wanted to continue living with family in the future. Most (87%) of adults with DS communicated verbally, though fewer could use written communication (17%). Life skills of greatest importance to adolescents and adults with DS included: learning about healthy foods (35%), preparing meals (34%), providing personal information when needed (35%), and describing symptoms to a doctor (35%). Life skills for patients with DS are varied; those associated with a medical appointment, such as sharing symptoms with the doctor, could improve for greater independence.

Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.

With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. The study is designed to characterize trajectories of change in DS-associated AD (DS-AD). The current study reports its cross-sectional analysis of the first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light chain (NfL), amyloid ß peptides (Aß1-40, Aß1-42), and glial fibrillary acidic protein (GFAP) were undertaken with previously published methods. The clinical data from the baseline visit include demographics as well as the cognitive measures under the Severe Impairment Battery (SIB) and Down Syndrome Mental Status Examination (DS-MSE). Biomarker distributions are described with strong statistical associations observed with participant age. The biomarker data contributes to understanding DS-AD across the spectrum of disease. Collectively, the biomarker data show evidence of DS-AD progression beginning at approximately 40 years of age. Exploring these data across the full LIFE-DSR longitudinal study population will be an important resource in understanding the onset, progression, and clinical profiles of DS-AD pathophysiology.

Specialty clinics for adults with Down syndrome: A clinic survey.

Specialty centers improve care for patients with Down syndrome. The cohort of adults with Down syndrome is increasing, but the capacity for specialty centers to meet their medical care needs is unknown. Electronic survey of staff of specialty clinics for adults with Down syndrome was conducted. Review of online clinic listings, and calculation of the number of adults with Down syndrome were performed. Analysis identified the percent of adults with Down syndrome who could have their medical care needs met in a current specialty clinic. Fourteen specialty clinics report providing care for 4038 adults with Down syndrome. Respondents reported gaps in care including: limitations of existing clinics, need for additional clinics, and knowledgeable health professionals in Down syndrome. Survey-respondent clinic capacity would meet needs of 3% of adults with Down syndrome. Twenty-five clinics for adults with Down syndrome were listed online with capacity to care for 6517 adults with Down syndrome meeting the needs of 5% of the population. Additional clinic capacity is needed to meet the needs of adults with Down syndrome. Survey of existing clinics provides guidance to create additional clinics, including: must-have team members, current sources of clinic financial support, and gaps in current clinical care.

Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome.

The COVID-19 pandemic necessitated a rapid transition from in-person office visits to virtual visits in the Down syndrome specialty program at Massachusetts General Hospital (MGH DSP). We describe the clinic transition to virtual visits in April 2020 and reflect on our six-month experience in virtual visits. Clinic metrics were tracked. Electronic survey responses were collected from caregivers attending virtual visits. Input from the MGH DSP team was collected. From April to September 2020, we maintained patient volume (45 visits per month) and overall satisfaction score (6.7 out of 7) following a sudden, unanticipated transition to virtual visits. Survey of 17 caregivers attending virtual visits found that most were equipped with technology, had access to a private location, and most were able to access visit without any limitations. Caregivers appreciated the convenience of virtual visits but sometimes missed the personal connection of an in-person visit. Overall, though, virtual visits were frequently viewed as no different than office visits. Team members identified benefits and challenges of virtual visits, as well as lessons learned from this transition. We were able to maintain multidisciplinary, specialty care with optimal caregiver feedback and sustained number of patient visits.