Use of the Adaptive Behaviour Dementia Questionnaire in a Down Syndrome Specialty Clinic.

Objective: To study the use of a dementia screening tool in our clinic cohort of adults with Down syndrome.

Study Design: A retrospective chart review of patients with Down syndrome was conducted to follow the use of the Adaptive Behaviour Dementia Questionnaire (ABDQ) in a dementia screening protocol. The ABDQ results for patients aged 40 years and older at a Down syndrome specialty clinic program were assessed.

Implementing a Quality Improvement Initiative to Screen for Dementia in a Down Syndrome Specialty Clinic.

Using quality improvement methods, we aimed to implement a protocol to assess for dementia among adults with Down syndrome (DS). To track implementation, interval retrospective chart review of patients with DS with visits to the Massachusetts General Hospital DS Program (MGH DSP) was conducted quarterly. The impact of a newly implemented protocol created and informed by clinical experts in the MGH DSP including laboratory tests, imaging, referrals, and screening tools for dementia and mental health concerns, was analyzed using statistical process control charts.

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.

Healthcare experiences of patients with Down syndrome from primarily Spanish-speaking households.

We report on the health care experiences of individuals with Down syndrome (DS) from families who are primarily Spanish-speaking. Data were collected through three methods: (1) a nationally distributed, 20-item survey, (2) two focus groups with seven family caregivers of individuals with DS who self-identified as living in primarily Spanish speaking households, and (3) 20 interviews with primary care providers (PCPs) who care for patients who are underrepresented minorities. Standard summary statistics were used to analyze the quantitative survey results.

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.

Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.

Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individuals with DS were analyzed to determine cardiometabolic risk by reporting observed distributions of cardiometabolic biomarkers in overweight/obese individuals with DS throughout the lifespan. Descriptive statistics and regression analyses by age categories determined the distributive percentiles for cardiometabolic biomarkers and tested for adiposity as a predictor of CR.

Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.

Scant research has explored the healthcare experiences of people with Down syndrome (DS) in the United States who are Black, African American, of African descent, or of mixed race. The purpose of this study was to identify and describe the barriers and facilitators that such patients and their caregivers face when accessing healthcare. We gathered data in three ways: focus groups with caregivers, a national survey completed by caregivers, and in-depth interviews with primary care providers.

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.

Using a Communication Passport within a Multidisciplinary Genetics Clinic.

Unlabelled: Multiple clinic models for Down syndrome exist; one model is the multidisciplinary, specialty clinic, such as the Massachusetts General Hospital Down Syndrome Program (MGH DSP).

Methods: Intrateam communication was identified as an area for improvement. Our team developed an intervention, the Passport, a paper-based communication tool passed by parents between clinical teams who evaluated the same patients in different locations.

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.

Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespan.

Respiratory illnesses are a significant contributor of morbidity and mortality among persons with Down syndrome (DS). Reviews have described respiratory illnesses of DS in childhood, but few have looked across the lifespan. Retrospective chart review of patients in our DS program with clinical encounters for respiratory illnesses from 2011 to 2020 was completed.

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.

Piloting the use of global health measures in a Down syndrome clinic.

Purpose: People with Down syndrome (DS) have a unique medical profile which may impact views of health. We aimed to explore the use of global health measures in DS.

Methods: Prospective survey in the Mass General Hospital Down Syndrome Program (MGH DSP) from December 2018 to July 2019 with Patient Reported Outcomes Measurement Information System (PROMIS)® instruments of global health.

Assessment of Stakeholder Engagement in a Down Syndrome Research Study.

There is growing recognition of the importance of engaging patients early in the design of research studies. For studies involving patients with intellectual and cognitive disabilities, researchers may consider engaging with family caregivers, health professionals, community advocates, and/or subject matter experts to provide a more multifaceted, surrogate perspective. Evaluating the engagement of these stakeholder groups in research is nascent, and tools are limited.

A randomized controlled trial of an online health tool about Down syndrome.

Purpose: We sought to determine if a novel online health tool, called Down Syndrome Clinic to You (DSC2U), could improve adherence to national Down syndrome (DS) guidelines. We also sought to determine if primary care providers (PCPs) and caregivers are satisfied with this personalized online health tool.

Methods: In a national, randomized controlled trial of 230 caregivers who had children or dependents with DS without access to a DS specialist, 117 were randomized to receive DSC2U and 113 to receive usual care.

Physical activity patterns in adults with Down Syndrome.

Background: Individuals with Down syndrome (DS) are less physically active than the general population, but limited data on objective physical activity patterns in adults with DS are available.

Methods: Free-living physical activity was measured by waist-worn accelerometry in adults with DS from 2018 to 2020. Data were analysed using descriptive statistics, bivariate and regression analyses.

Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase.

Background: Down syndrome (DS) is the most common genetic cause of Alzheimer's disease (AD), but diagnosis of AD in DS is challenging due to the intellectual disability which accompanies DS. When disease-modifying agents for AD are approved, reliable biomarkers will be required to identify when and how long people with DS should undergo treatment. Three cardinal neuropathological features characterize AD, and AD in DS-Aβ amyloid plaques, tau neurofibrillary tangles, and neuronal loss.

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.

Purpose: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease.

Methods: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected.