A5087852086- Down syndrome and intellectual disability research
- Chronic Disease Management Strategies
- Adolescent and Pediatric Healthcare
- Family and Disability Support Research
- Disability Rights and Representation
- Emergency and Acute Care Studies
- Pneumonia and Respiratory Infections
- Child and Adolescent Health
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Delphi Technique in Research
- Medical Coding and Health Information
- Aging, Health, and Disability
- Genetics and Neurodevelopmental Disorders
- Racial and Ethnic Identity Research
- Family Support in Illness
- Health disparities and outcomes
- Diabetes Management and Research
- Epigenetics and DNA Methylation
- Dementia and Cognitive Impairment Research
- Immunodeficiency and Autoimmune Disorders
Massachusetts General Hospital
2021-2024
Harvard University
2022
Abstract Research to guide clinicians in the management of devastating regression which can affect adolescents and young adults with Down syndrome is limited. A multi‐site, international, longitudinal cohort individuals a clinical diagnosis Unexplained Regression (URDS) was collated through seven clinics. Tiered medical evaluation, 28‐item core symptom list, interim are described naturalistically. Improvement—defined by percentage baseline function on Parent‐reported Functional Score,...
Abstract Background Down syndrome has a unique medical and psychological profile. To date, few studies have asked individuals with about their views of health. Methods Eight focus groups 20 parents 8 syndrome, were conducted virtually via videoconferencing to obtain participants' health indicators. Focus group moderators employed some modifications for including simplified language use graphics. Transcripts coded using hybrid inductive/deductive framework thematically analysed the Framework...
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) longitudinal natural history recruiting 270 adults DS over age 25. designed to characterize trajectories change in DS-associated AD (DS-AD). current reports its cross-sectional analysis first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light...
Levels of independence vary in individuals with Down syndrome (DS). We began this study to describe the current life skills our clinic population children and adults DS. collected reviewed demographics, living situation, from an electronic intake form used procedures. Descriptive statistics for cohort included mean, standard deviation, frequencies. From 2014-2020, 350 pediatric 196 adult patients (range 0-62 years) a first visit Massachusetts General Hospital Syndrome Program are described....
Abstract Background Down syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social mental well‐being. Methods In 2021, we presented our proposed conceptual model to expert panels, four focus groups of parents individuals with DS age 0–21 years 13–21 through videoconferencing technology. Participants gave feedback discussed the concept in DS. Results Feedback from participants resulted iterative refinement model,...
Abstract 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 seven family caregivers DS self‐identified as living in Spanish speaking households, and (3) 20 interviews primary providers (PCPs) for patients underrepresented minorities. Standard summary statistics used to analyze quantitative survey results....
Abstract Scant research has explored the healthcare experiences of people with Down syndrome (DS) in United States who are Black, African American, descent, or mixed race. The purpose this study was to identify and describe barriers facilitators that such patients their caregivers face when accessing healthcare. We gathered data three ways: focus groups caregivers, a national survey completed by in‐depth interviews primary care providers. Many physicians felt DS race receive lower quality...
Abstract Down syndrome (DS) has a unique medical and psychological profile. To date, few studies have asked individuals with DS about their views of health, fewer explored the impact COVID‐19 on health families. We used mixed methods approach including two parents conducted during pandemic: (1) eight virtual focus groups, comprised 20 8 to obtain participants' (2) 20‐item questionnaire care experience patients who are African American or come from primarily Spanish‐speaking homes. Focus...
Abstract Background Down syndrome is the most common liveborn genetic condition. However, there are no surveys measuring societal services and supports for people with syndrome. We developed a questionnaire so that initiatives could be targeted towards countries in need of assistance. Method formed geographically diverse group physicians, family members syndrome, not‐for‐profit organisations to create survey supports. used modified Delphi method disseminated non‐profit worldwide. Results Our...
Abstract Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co‐occurring recurrent infections, response to pneumococcal immunization, and association these was previously unknown. We screened individuals DS using an 11‐item screener prospectively collected titers laboratory results. found that did not successfully predict which who would inadequate titers. Thirty four 55 (62%) had abnormal...
Studies in the neurotypical population have demonstrated that personal social networks can mitigate cognitive decline and development of Alzheimer disease. To assess whether these benefits also be extended to people with Down syndrome (DS), we studied how measured this population. We adapted a instrument previously created, validated, implemented for created two versions survey: one participants DS, ages 25 older, another their study partners, who spent minimum 10 h/wk caregiver role....