Stephanie L. Santoro
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View article: Daily Activities, Exercise and Endurance in Down Syndrome
Daily Activities, Exercise and Endurance in Down Syndrome Open
Given the increased prevalence of overweight and obesity in Down syndrome (DS) and known barriers to exercise and physical activity, we surveyed caregivers on these topics in a health survey. We aimed to explore how different daily activit…
View article: Factor Structure of the 15-Item PedsQL 4.0 Short Form in a Cohort With Down Syndrome
Factor Structure of the 15-Item PedsQL 4.0 Short Form in a Cohort With Down Syndrome Open
BACKGROUND AND OBJECTIVES The Pediatric Quality of Life Inventory (PedsQL) is a well-known instrument measuring health-related quality of life, which has been studied in healthy individuals and in disease-specific cohorts. The PedsQL Short…
View article: Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report
Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report Open
22q11.2 deletion syndrome is the most frequent chromosomal microdeletion syndrome, with an estimated frequency of about 1/4000 in children younger than 1 year. Associated features in neonates and infants are conotruncal heart defects, inte…
View article: Use of the Adaptive Behaviour Dementia Questionnaire in a Down Syndrome Specialty Clinic
Use of the Adaptive Behaviour Dementia Questionnaire in a Down Syndrome Specialty Clinic Open
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…
View article: De novo variants in immune regulatory genes in Down syndrome regression disorder
De novo variants in immune regulatory genes in Down syndrome regression disorder Open
View article: Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences
Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences Open
Background The meanings of neurodevelopmental conditions are socially and culturally defined. We explored how parents of a child with Down syndrome experienced public and professional understandings of Down syndrome. Method Qualitative int…
View article: Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder Open
Objective To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. Methods A multicenter, re…
View article: P851: Successful (and unsuccessful) recruitment approaches and participant loss in a Down syndrome survey
P851: Successful (and unsuccessful) recruitment approaches and participant loss in a Down syndrome survey Open
Health care research often involves low-incidence condition-specific populations, presenting challenges in sample frame identification and recruitment. Despite this, a sample that is representative of the characteristic of interest is esse…
View article: Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics Open
Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co‐occurring recurrent infections, the response to pneumococcal immunization, and the association…
View article: Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome
Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome Open
Objectives To assess brain development in living fetuses with Down syndrome (DS) by biometric measurements on fetal brain magnetic resonance images (MRI). Methods We scanned 10 MRIs of fetuses with confirmed trisomy 21 at birth and 12 cont…
View article: Views on the impact of the <scp>COVID</scp>‐19 pandemic on health in people with Down syndrome from diverse backgrounds
Views on the impact of the <span>COVID</span>‐19 pandemic on health in people with Down syndrome from diverse backgrounds Open
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 the…
View article: Global health measures from a <scp>N</scp>ational <scp>D</scp>own <scp>S</scp>yndrome <scp>R</scp>egistry
Global health measures from a <span>N</span>ational <span>D</span>own <span>S</span>yndrome <span>R</span>egistry Open
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 t…
View article: Table of Contents
Table of Contents Open
View article: Health in Down syndrome: creating a conceptual model
Health in Down syndrome: creating a conceptual model Open
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 t…
View article: Indicators of health in <scp>Down syndrome</scp>: A virtual focus group study with patients and their parents
Indicators of health in <span>Down syndrome</span>: A virtual focus group study with patients and their parents Open
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 syndr…
View article: Timing of Referrals to a Down Syndrome Parent Group by Race
Timing of Referrals to a Down Syndrome Parent Group by Race Open
Introduction: The Down Syndrome Association of Central Ohio (DSACO) is a nonprofit organization that supports families, promotes community involvement, and encourages lifetime opportunities for people with Down syndrome. Methods: At DSACO,…
View article: Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic
Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic Open
View article: Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus Open
Objective To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background There are no consensus criteria for the evaluation or diagnosis of neuroc…
View article: Proxy‐report in individuals with intellectual disability: A scoping review
Proxy‐report in individuals with intellectual disability: A scoping review Open
Background Views can be collected from individuals (self‐report) or others on their behalf (proxy‐report). Objective We aimed to review the literature on methods and statistical approaches used to evaluate observer versus self‐report respo…
View article: Using a Communication Passport within a Multidisciplinary Genetics Clinic
Using a Communication Passport within a Multidisciplinary Genetics Clinic Open
Introduction: 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…
View article: Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic
Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic Open
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, …
View article: Delivering a new diagnosis of Down syndrome: Parent experience
Delivering a new diagnosis of Down syndrome: Parent experience Open
Down syndrome is one of the most common chromosomal abnormalities. In 2014, in conjunction with the passing of House Bill 552, the Ohio Department of Health released a Down syndrome fact sheet to be given to parents at time of diagnosis to…
View article: 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
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 Open
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 s…
View article: Piloting the use of global health measures in a Down syndrome clinic
Piloting the use of global health measures in a Down syndrome clinic Open
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 Progr…
View article: Opportunities, barriers, and recommendations in Down syndrome research
Opportunities, barriers, and recommendations in Down syndrome research Open
BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is s…
View article: Congenital heart disease in Down syndrome – A review of temporal changes
Congenital heart disease in Down syndrome – A review of temporal changes Open
View article: Correction: A randomized controlled trial of an online health tool about Down syndrome
Correction: A randomized controlled trial of an online health tool about Down syndrome Open
View article: Does a Web-Based Platform for Caregivers Help People with Down Syndrome Get Recommended Health Services?
Does a Web-Based Platform for Caregivers Help People with Down Syndrome Get Recommended Health Services? Open
What were the limits of the study?Most caregivers in the study were white and had college degrees.Findings may differ for caregivers from other backgrounds.Future research could test DSC2U with people from other backgrounds. How can people…
View article: A randomized controlled trial of an online health tool about Down syndrome
A randomized controlled trial of an online health tool about Down syndrome Open
View article: Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database Open