Down syndrome across the lifespan Santoro, Stephanie L.
American journal of medical genetics. Part C, Seminars in medical genetics,
December 2023, 2023-Dec, 2023-12-00, 20231201, Letnik:
193, Številka:
4
Journal Article
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.
K Awards: The Journey of a Thousand Steps Santoro, Stephanie L; Peters, Mary Linton B
Annals of internal medicine,
12/2021, Letnik:
174, Številka:
12
Journal Article
ABSTRACT
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 answer basic questions regarding the diagnosis. Our survey helps us to understand parental experience in receiving a new Down syndrome diagnosis including information provided. An electronic survey was created and distributed to members of established Down syndrome parent groups in Ohio. Questions assessed the parental experience at the time of receiving a Down syndrome. We also looked at parent perceptions after the implementation of a Down syndrome fact sheet. Responses were collected regarding experience at the time of diagnosis and broadly categorized into a trichotomy of positive experience (>5), neutral experience (=5), and negative experience (<5). Parents report an overall negative experience when receiving a new diagnosis of Down syndrome (mean of 4 on scale of 0–10), which did not increase after 2014 (p >0.05). Eighty‐five percent of parents with children born in 2014 or after report that they did not receive the Ohio Department of Health Down syndrome fact sheet. Legislation regarding a diagnosis of Down syndrome exists in 20 states with significant variability, readability of those fact sheets. Legislation requiring accurate information be given to families was not always followed, and printed literature alone did not correlate with improved parent experience; additional efforts are necessary to ensure that the experience receiving a diagnosis of Down syndrome is not a negative one.
Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature to ...evaluate gaps and address key questions. A series of key questions were formulated a priori to inform the search strategy and review process; addressed prevalence, severity, etiology, risk factors, preventive methods, screening, and financial costs, potential benefits or harms of screening. Using the National Library of Medicine database, PubMed, detailed literature searches on pneumonia and respiratory infections in Down syndrome were performed. Previously identified review articles were also assessed. The quality of available evidence was then evaluated and knowledge gaps were identified. Forty‐two 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. Pneumonia and respiratory infections are more prevalent and more severe in individuals with Down syndrome compared to healthy controls through literature review, yet there are gaps in the literature regarding the etiology of pneumonia, the infectious organism, risk factors for infection, and to guide options for prevention and screening. There is urgent need for additional research studies in Down syndrome, especially in the time of the current COVID‐19 pandemic.
Objectives To assess whether children with Down syndrome in the US are at an increased risk for obesity, we determined the obesity prevalence and analyzed obesity development throughout childhood in ...a cohort of children with Down syndrome. In addition, we analyzed a comorbidity that is associated with Down syndrome and obesity, obstructive sleep apnea syndrome (OSAS). Study design This study was a retrospective chart review that evaluated 303 children ages 2 through 18 years with a diagnosis of Down syndrome. All children were patients at Cincinnati Children's Hospital Medical Center with multiple height and weight measurements. To determine obesity burden, the rate of obesity was compared with a local control cohort using contingency tables. Change in obesity rate through time was determined with mixed models. Association of obesity with OSAS was determined with contingency tables. Results We evaluated 303 individuals, 47.8% of whom were obese (body mass index ≥95th percentile for age and sex). This was significantly higher than the general pediatric population, which had a 12.1% obesity rate ( P < .0001). Body mass index z-scores did not change markedly over time ( P = .40). The majority of children with Down syndrome also had OSAS (74.0% of the 177 children who had polysomnography studies). However, OSAS risk was elevated in obese children (risk ratio = 2.4, P = .0015). Conclusions Our results indicate that children with Down syndrome are at a substantial risk for obesity and OSAS. These findings support the need for more aggressive weight management in early childhood and throughout the lifespan.
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.
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.
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).
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