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.

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.

Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era.

Code status is a label in the medical record indicating a patient's wishes for end-of-life (EOL) care in the event of a cardiopulmonary arrest. People with intellectual disabilities had a higher risk of both diagnosis and mortality from coronavirus infections (COVID-19) than the general population. Clinicians and disability advocates raised concerns that bias, diagnostic overshadowing, and ableism could impact the allocation of code status and treatment options, for patients with intellectual disabilities, including Down syndrome (DS). To study this, retrospective claims data from the Vizient® Clinical Data Base (used with permission of Vizient, all rights reserved.) of inpatient encounters with pneumonia (PNA) and/or COVID-19 at 825 hospitals from January 2019 to June 2022 were included. Claims data was analyzed for risk of mortality and risk of "Do Not Resuscitate" (DNR) status upon admission, considering patient age, admission source, Elixhauser comorbidities (excluding behavioral health), and DS. Logistic regression models with backward selection were created. In total, 1,739,549 inpatient encounters with diagnoses of COVID-19, PNA, or both were included. After controlling for other risk factors, a person with a diagnosis of DS and a diagnosis of COVID-19 PNA had 6.321 odds ratio of having a DNR status ordered at admission to the hospital compared with those with COVID-19 PNA without DS. The diagnosis of DS had the strongest association with DNR status after controlling for other risk factors. Open and honest discussions among healthcare professionals to foster equitable approaches to EOL care and code status are needed.

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.

Dermatology Life Quality Index survey in patients with Down syndrome and caregivers.

Down syndrome (DS) is associated with many dermatological conditions, including hidradenitis suppurativa, folliculitis, and alopecia areata. Despite the high incidence of skin conditions in this population, there are no quality of life (QoL) studies in the dermatology literature focused on patients with DS or their caregivers. The frequently used QoL assessment tool, the Dermatology Life Quality Index (DLQI), has yet to be studied in this population. This study addresses these disparities by capturing how various skin conditions affect the QoL of people with DS and their caregivers and assessing the utility of the DLQI.

Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences.

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 interviews with 25 parents of a child with Down syndrome living in Denmark. From a reflexive thematic analysis, we developed themes describing understandings (i.e., attitudes or perceptions) of Down syndrome. RESULTS: The parents experienced that the Down syndrome diagnosis acted as a 'label'; this had perceived positive and negative consequences for the child. The parents felt others understood Down syndrome as severe and undesirable. This attitude was tied to the existence of prenatal screening. Finally, to the parents, professional support for their child expressed an understanding of children with Down syndrome as valued individuals. CONCLUSIONS: Parents encountered ambiguous understandings of Down syndrome. This should be recognised by professionals who may shape such understandings.

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.

Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.

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 of these was previously unknown. We screened individuals with DS using an 11-item screener and prospectively collected pneumococcal titers and laboratory results. We found that the screener did not successfully predict which individuals with DS who would have inadequate pneumococcal titers. Thirty four of the 55 individuals with DS (62%) had abnormal pneumococcal titers demonstrating an inadequate response to routine immunization. In the absence of a valid screener, clinicians should consider screening all individuals with DS through the use of pneumococcal titers to 23 serotypes to assess vaccine response.

Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic.

OBJECTIVE: To address gaps in routine recommended care for children with Down syndrome, through quality improvement during the coronavirus disease 2019 (COVID-19) pandemic. STUDY DESIGN: A retrospective chart review of patients with Down syndrome was conducted. Records of visits to the Massachusetts General Hospital Down Syndrome Program were assessed for adherence to 5 components of the 2011 American Academy of Pediatrics (AAP) Clinical Report, "Health Supervision for Children with Down Syndrome." The impact of 2 major changes was analyzed using statistical process control charts: a planned intervention of integrations to the electronic health record for routine health maintenance with age-based logic based on a diagnosis of Down syndrome, created and implemented in July 2020; and a natural disruption in care due to the COVID-19 pandemic, starting in March 2020. RESULTS: From December 2018 to March 2022, 433 patients with Down syndrome had 940 visits. During the COVID-19 pandemic, adherence to the audiology component decreased (from 58% to 45%, P < .001); composite adherence decreased but later improved. Ophthalmology evaluation remained stable. Improvement in adherence to 3 components (thyroid-stimulating hormone, hemoglobin, sleep study ever) in July 2020 coincided with electronic health record integrations. Total adherence to the 5 AAP guideline components was greater for follow-up visits compared with new patient visits (69% and 61%, respectively; P < .01). CONCLUSIONS: The COVID-19 pandemic influenced adherence to components of the AAP Health supervision for children with Down syndrome, but improvements in adherence coincided with implementation of our intervention and reopening after the COVID-19 pandemic.

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).

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. Across seven DS clinics, data were collected on 240 patients between the ages of 3 and 63 years, with one quarter overweight and three quarters obese among children and nearly all adults being obese. In children and adults, most cardiometabolic biomarker profiles showed distributive values within normal ranges. Blood lipids were positively associated with body mass index (BMI) in children (high density lipid-cholesterol, p = 0.01; low density lipid-cholesterol, p = 0.02). Levels of hs-CRP were elevated in both children and adults, with BMI positively associated with hs-CRP in adults with DS (p = 0.04). Liver enzyme values were positively associated with BMI in children and adults. The data suggest that in contrast to the general population, in individuals with Down syndrome, being overweight and obese does not appear to confer a significantly increased risk for cardiometabolic disease by biomarker profile. Individuals with DS who are overweight/obese appear to have unique cardiometabolic profiles unrelated to adiposity, notable for increased hs-CRP and normal HA1c levels.

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.

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.

Caregivers evaluate independence in individuals with Down syndrome.

Independence is both a sense of autonomy and self-reliance coupled with the skills to complete tasks without assistance. Questionnaire of caregivers of individuals with Down syndrome asked about factors related to independence on six topics: safety, communication, self-care, daily living, social/leisure, and vocational/employment. Responses from 408 caregivers to an independence questionnaire were received, and summarized using means and frequencies. Top goals by topic were safety from sexual abuse, communicating wants and needs, toileting independently, living independently/semi-independently, engaging in leisure time appropriately, and reading and writing. Independence is a complex, multifactorial phenomenon which varies among individuals with DS.

Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.

Compared to the general population, individuals with Down syndrome (DS) are at a significantly increased risk to develop mental health conditions. This study sought to examine individuals with DS and co-existing mental health comorbidities at one DS specialty clinic. Retrospective chart review of medical records including demographics, genetic testing history, personal and familial mental health history, referrals for mental health indications, and recommendations was performed. Summary statistics, logistic regression, and log of odds were converted to odd ratios to assess associations and significance. The charts of 327 patients, average 19.4 years of age (1-70), were reviewed. Nearly half the participants (42.2%) had at least one diagnosis of a mental health condition. Those with a family history were significantly more likely to have a personal diagnosis of a mental health condition than those without a family history (p < 0.01). Moreover, those who completed referrals often received medical management recommendations (86%). This study highlights the prevalence of mental health comorbidities among individuals with DS, and the referral process for mental health conditions, at one DS specialty clinic. Further research is needed to investigate our family history findings, and to determine if these results are generalizable across other DS clinics.

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.

Proxy-report in individuals with intellectual disability: A scoping review.

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 responses from individuals with intellectual disability or Down syndrome. METHODS: A series of key questions related to statistical approaches and data collection methods were formulated a priori to inform the search strategy and review process. These addressed the topics of self-report in individuals with intellectual disability, including Down syndrome. Using the National Library of Medicine database, PubMed, detailed literature searches were performed. The quality of available evidence was then evaluated, the existing literature was summarised, and knowledge gaps and research needs were identified. RESULTS: Fifty relevant original articles were identified which addressed at least one key question. Study details, including: research design, internal validity, external validity, and relevant results are presented. Review of studies of individuals with intellectual disability which used a variety of statistical approaches showed mixed agreement between self-report and proxy-report. CONCLUSION: Few studies identified to-date have used self-report from individuals with Down syndrome, but lessons from the existing intellectual disability literature can guide researchers to incorporate self-report from individuals with Down syndrome in the future.

Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome.

BACKGROUND: Adults with Down syndrome commonly have low levels of physical activity and face social barriers to engaging in physical activity, including boredom and companionship concerns. Adults with Down syndrome are at increased risk for several co-occurring medial conditions known to benefit from physical activity, including obesity and dementia. METHOD: This study surveyed 140 caregivers of adults with Down syndrome to determine the physical activity preferences of their adult with Down syndrome. RESULTS: Dancing was the most frequently caregiver-reported physical activity preference for adults with Down syndrome, followed by walking and active video gaming. Rowing, using an elliptical machine, and jogging were the least preferred activities. Most caregivers reported that their adult with Down syndrome has a companion available for physical activity. CONCLUSION: Promoting dance in adults with Down syndrome, a caregiver-reported preferred form of physical activity, may help improve physical activity levels and decrease sedentary behaviours in this population.

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.

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. The primary outcome was adherence to five health evaluations indicated by national guidelines for DS. DSC2U is completed electronically, in all mobile settings, by caregivers at home. The outputs-personalized checklists-are used during annual wellness visits with the patient's PCP. RESULTS: A total of 213 participants completed a 7-month follow-up evaluation. In the intention-to-treat analysis, the intervention group had a 1.6-fold increase in the number of indicated evaluations that were recommended by the primary care provider or completed compared with controls. Both caregivers and PCPs reported high levels of satisfaction with DSC2U. CONCLUSIONS: DSC2U improved adherence to the national DS health-care guidelines with a novel modality that was highly valued by both caregivers and PCPs.