Publications by authors named "Stephanie Santoro"

Using quality improvement methods, we aimed to implement a protocol to assess for dementia among adults with Down syndrome (DS). To track implementation, interval retrospective chart review of patients with DS with visits to the Massachusetts General Hospital DS Program (MGH DSP) was conducted quarterly. The impact of a newly implemented protocol created and informed by clinical experts in the MGH DSP including laboratory tests, imaging, referrals, and screening tools for dementia and mental health concerns, was analyzed using statistical process control charts.

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Study Objectives: To examine the feasibility, adherence to therapy, and efficacy of hypoglossal nerve stimulation (HGNS) in adults with Down syndrome (DS) with obstructive sleep apnea.

Methods: Adults patients with DS who met criteria for hypoglossal nerve stimulation were prospectively enrolled. Objective adherence was extracted from a cloud-based compliance database.

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Adults with Down syndrome (DS) have unique health care needs with evidence-based care guidelines to address these. Yet, the 2020 adult guidelines were unstudied; we aimed to assess adherence to these guidelines. We reviewed clinical and demographic data from medical charts of 327 adults with DS who were seen in the MGH DSP.

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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.

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Background: Down Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or subacute neuropsychiatric symptoms in previously healthy individuals with Down syndrome (DS). Many patients exhibit immunotherapy-responsiveness, indicative of immune dysregulation as a potential underlying etiology. While hypotheses are emerging regarding the role of interferon signaling in DSRD and other autoimmune conditions associated with DS, it is unclear why a small subset of individuals with DS develop DSRD.

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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.

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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.

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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.

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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, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30 years and meeting international consensus criteria for DSRD were included.

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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).

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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.

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Article Synopsis
  • * An 11-item screener used in the study was ineffective in predicting which individuals with DS had low levels of protection from pneumococcal vaccines.
  • * Out of 55 individuals tested, 34 (62%) showed inadequate responses, suggesting that all individuals with DS should be routinely screened for their immune response to pneumococcal vaccines.
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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.

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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 control fetal MRIs without any detected anomalies. Fetal brain MRIs were analyzed using 14 fetal brain and skull biometric parameters.

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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.

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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.

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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.

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Unlabelled: 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, ongoing efforts for quality improvement included: a Medical Advisory Committee in 2016, the creation of resources groups for Latino families in 2017, for Somali families from 2018 to 2019, and for African American families in fall 2018, presentations at birth hospitals, and close tracking of referrals from hospitals when an infant with Down syndrome is born. In addition, the timing of referrals, either "early" (on the day of birth or the first day after birth) or "late" (2 or more days after birth), were tracked and plotted in p charts.

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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.

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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.

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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.

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Article Synopsis
  • Research on managing Unexplained Regression in Down syndrome (URDS) is sparse, leading to the compilation of data from seven clinics with 51 adolescents and young adults diagnosed with URDS.
  • The study employed various medical evaluations and treatments, with noticeable improvement in patient symptoms particularly linked to intravenous immunoglobulin (IVIG) therapy.
  • Findings indicate that URDS can be treated effectively and highlight the need for future research to create standardized guidelines and objective measures for clinical practice in managing this condition.
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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 neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets.

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