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

Santoro, Stephanie L.; Howe, Yamini J.; Krell, Kavita; Skotko, Brian G.; Co, John Patrick T.

doi:10.1016/j.jpeds.2022.10.021

Cited by 5 publications

(6 citation statements)

References 22 publications

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“…The impacts of the COVID‐19 pandemic on health were particularly evident, and concordant with our previous findings that some aspects of health maintenance worsened during the pandemic (Santoro, Howe, et al, 2023). In this study, individuals with DS in FGs mentioned that they had been masking and washing/sanitizing hands, which parents endorsed and largely considered a positive outcome of the pandemic.…”

Section: Discussionsupporting

confidence: 91%

“…Parents cited increased ease of scheduling virtual appointments as a benefit which aligns with our findings of positive views of telemedicine during the COVID-19 pandemic (Santoro, Donelan, et al, 2021). The shift online led to decreased adherence to preventative care measures, specifically audiograms, among patients with DS though rates later returned to baseline (Santoro, Howe, et al, 2023);…”

Section: Discussionsupporting

confidence: 82%

“…Parents cited increased ease of scheduling virtual appointments as a benefit which aligns with our findings of positive views of telemedicine during the COVID‐19 pandemic (Santoro, Donelan, et al, 2021). The shift online led to decreased adherence to preventative care measures, specifically audiograms, among patients with DS though rates later returned to baseline (Santoro, Howe, et al, 2023); this could be attributed to wariness in attending in‐person visits at the start of the pandemic or testing site closure. Steps could be taken in the future to carry‐over some of these benefits after the COVID‐19 pandemic, such as continuing to offer telemedicine visits when appropriate, considering ways to virtually “visit” a child's classroom to bridge the gap between home and school, and continuing to explore and communicate a full range of emotions.…”

Section: Discussionmentioning

confidence: 99%

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Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds

Santoro

Baker²,

Blake

et al. 2023

American J of Med Genetics Pt A

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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.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds

Santoro

Baker²,

Blake

et al. 2023

American J of Med Genetics Pt A

Self Cite

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“…This cohort consisted of individuals in one DS clinic, the MGH DSP; may not generalize to other DS clinics and may not be representative of the larger DS population. The demographic traits of the database-enrolled cohort had a racial diversity which aligned with the clinic population as a whole suggesting that the individuals who elect to participate in the research database represent the clinic well (S. L. Santoro et al, 2021;S. L. Santoro, Howe, et al, 2022).…”

Section: Discussionmentioning

confidence: 99%

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

Harisinghani,

Raffaele,

Zawatsky

et al. 2023

American J of Med Genetics Pt C

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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.

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“…In this edition of the of The Journal of Pediatrics 4 Santoro et al report a retrospective cohort analysis of compliance in a specialty Down syndrome clinic with the 2011 AAP recommendations around the timing of a local quality improvement initiative with integrations in the electronic health record and punctuated also by the COVID-19 pandemic and the introduction of telehealth care. The heterogeneity of their outcomes in adherence to the AAP recommendations reflects many independent variables, some that cannot be easily quantified, yet highlights the importance of quality improvement initiatives in addressing the problem.…”

mentioning

confidence: 99%

Quality Improvement Initiatives to Inform Optimal Care for Down Syndrome

Bull

2023

The Journal of Pediatrics

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

Cited by 5 publications

References 22 publications

Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds

Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds

Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic

Quality Improvement Initiatives to Inform Optimal Care for Down Syndrome

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