RESUMEN
Adults with Down syndrome are at an increased risk for developing certain medical conditions, which can be further exacerbated by lower levels of physical activity. Physician counseling can provide a supportive environment to encourage modes of physical activity accessible to patients and caregivers. While some adults with Down syndrome have access to a Down syndrome specialty clinic, most are followed only by a primary care physician. This report includes adult patients with Down syndrome followed at a Down syndrome specialty clinic in Boston and compares physical activity assessment and counseling rates by Down syndrome specialists and primary care physicians. Patients were more likely to have physical activity assessment and counseling performed by a Down syndrome specialist than by a primary care physician. A better understanding of the barriers primary care physicians caring for adults with Down syndrome experience related to physical activity counseling could help improve important health habit counseling in this high-risk population.
Asunto(s)
Síndrome de Down , Medicina , Adulto , Humanos , Síndrome de Down/complicaciones , Consejo , Ejercicio Físico , Factores de RiesgoRESUMEN
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.
Asunto(s)
Síndrome de Down , Neumonía , Humanos , Síndrome de Down/complicaciones , Anticuerpos Antibacterianos , Streptococcus pneumoniae , Vacunas Neumococicas/uso terapéuticoRESUMEN
Studies in the neurotypical population have demonstrated that personal social networks can mitigate cognitive decline and the development of Alzheimer disease. To assess whether these benefits can also be extended to people with Down syndrome (DS), we studied whether and how personal networks can be measured in this population. We adapted a personal networks instrument previously created, validated, and implemented for the neurotypical population. We created two versions of the survey: one for participants with DS, ages 25 and older, and another for their study partners, who spent a minimum of 10 h/wk in a caregiver role. Participants with DS gave concordant data to those of study partners. Their personal networks included a median network size of 7.50, density 0.80, constraint 46.00, and effective size 3.07. Personal networks were composed of 50% kin, 80% who live within 15 miles, and 80% who eat a healthy diet. In this proof-of-principle study, we demonstrated that the personal networks of people with DS can be quantitatively analyzed, with no statistical difference between self-report and parent-proxy report. Future research efforts can now evaluate interventions to enhance personal networks for preventing Alzheimer disease in this population.
Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Síndrome de Down , Humanos , Adulto , Síndrome de Down/epidemiología , Síndrome de Down/psicología , Enfermedad de Alzheimer/epidemiología , Cuidadores , Red SocialRESUMEN
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.
Asunto(s)
Enfermedades Cardiovasculares , Síndrome de Down , Enfermedades Metabólicas , Humanos , Niño , Adulto , Preescolar , Adolescente , Adulto Joven , Persona de Mediana Edad , Sobrepeso/complicaciones , Sobrepeso/epidemiología , Proteína C-Reactiva/análisis , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Estudios Transversales , Factores de Riesgo , Obesidad/complicaciones , Índice de Masa Corporal , Biomarcadores , Lípidos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiologíaRESUMEN
Scant research has explored the healthcare experiences of people with Down syndrome (DS) in the United States who are Black, African American, of African descent, or of mixed race. The purpose of this study was to identify and describe the barriers and facilitators that such patients and their caregivers face when accessing healthcare. We gathered data in three ways: focus groups with caregivers, a national survey completed by caregivers, and in-depth interviews with primary care providers. Many caregivers and primary care physicians felt that patients with DS who are Black, African American, of African descent, or of mixed race receive a lower quality of medical care than their white counterparts with DS. Caregivers mentioned feeling tired of being reminded by the medical community about their race and wanting acknowledgment that raising a child with DS can be hard at times. Many felt that the medical community's conscious and unconscious racial biases do negatively impact the care of their loved ones with DS. Caregivers desired more race concordant medical providers or, when not possible, medical providers who are willing to learn more about DS and build trusted, longitudinal relationships. Primary care providers discussed the need for funded resources and support services to effectively care for their patients with DS.
Asunto(s)
Negro o Afroamericano , Síndrome de Down , Humanos , Población Negra , Cuidadores , Atención a la Salud , Síndrome de Down/etnología , Estados Unidos/epidemiologíaRESUMEN
We report on the health care experiences of individuals with Down syndrome (DS) from families who are primarily Spanish-speaking. Data were collected through three methods: (1) a nationally distributed, 20-item survey, (2) two focus groups with seven family caregivers of individuals with DS who self-identified as living in primarily Spanish speaking households, and (3) 20 interviews with primary care providers (PCPs) who care for patients who are underrepresented minorities. Standard summary statistics were used to analyze the quantitative survey results. Focus group and interview transcripts, as well as an open-ended response question in the survey, were analyzed using qualitative coding methods to identify key themes. Both caregivers and PCPs described how language barriers make giving and receiving quality care difficult. Caregivers additionally described condescending, discriminatory treatment within the medical system and shared feelings of caregiver stress and social isolation. Challenges to care experienced by families of individuals with DS are compounded for Spanish-speaking families, where the ability to build trust with providers and in the health care system may be compromised by cultural and language differences, systemic issues (lack of time or inability to craft more nuanced schedules so that patients with higher needs are offered more time), mistrust, and sometimes, overt racism. Building this trust is critical to improve access to information, care options, and research opportunities, especially for this community that depends on their clinicians and nonprofit groups as trusted messengers. More study is needed to understand how to better reach out to these communities through primary care clinician networks and nonprofit organizations.
Asunto(s)
Síndrome de Down , Hispánicos o Latinos , Humanos , Atención a la Salud , Lenguaje , Barreras de ComunicaciónRESUMEN
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.
Asunto(s)
COVID-19 , Síndrome de Down , Niño , Humanos , COVID-19/epidemiología , Pandemias , Síndrome de Down/epidemiología , Síndrome de Down/psicología , Padres/psicología , Salud MentalRESUMEN
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.
Asunto(s)
Síndrome de Down , Adolescente , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Síndrome de Down/terapia , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Evaluación de Resultado en la Atención de Salud , Resultado del Tratamiento , Adulto JovenRESUMEN
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.
Asunto(s)
Síndrome de Down/epidemiología , Pautas de la Práctica en Medicina/tendencias , Telemedicina/métodos , Telemedicina/estadística & datos numéricos , Adolescente , Adulto , Cuidadores , Niño , Preescolar , Síndrome de Down/diagnóstico , Síndrome de Down/terapia , Femenino , Humanos , Lactante , Comunicación Interdisciplinaria , Masculino , Grupo de Atención al Paciente , Interfaz Usuario-Computador , Adulto JovenRESUMEN
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.
Asunto(s)
Síndrome de Down , Cuidadores , Niño , Síndrome de Down/diagnóstico , Personal de Salud , Humanos , Satisfacción PersonalRESUMEN
Respiratory illnesses are a significant contributor of morbidity and mortality among persons with Down syndrome (DS). Reviews have described respiratory illnesses of DS in childhood, but few have looked across the lifespan. Retrospective chart review of patients in our DS program with clinical encounters for respiratory illnesses from 2011 to 2020 was completed. Eighteen percent of clinical encounters were due to respiratory illnesses. Of these, 120 were seen in the emergency department, 88 were admitted, and 21 were seen in urgent care. Common comorbidities included congenital heart disease, asthma, and dysphagia. Admission was common for children under the age of 5 years and adults over the age of 45 years. Admitted patients were more likely to have history of pneumonia and chronic lung disease. Of admitted patients, 77% required supplemental oxygen and 46% required intensive care unit admission. Our findings highlight that respiratory illnesses are a common cause of healthcare utilization among patients with DS, particularly early in childhood and later in life. Patients were seen predominately in outpatient settings; when an inpatient setting was needed, they frequently required higher levels of care. With our findings, clinicians can stratify patients most at risk for respiratory infections and provide targeted monitoring.
Asunto(s)
Asma/epidemiología , Síndrome de Down/epidemiología , Neumonía/epidemiología , Infecciones del Sistema Respiratorio/epidemiología , Adolescente , Adulto , Asma/complicaciones , Asma/patología , Niño , Preescolar , Estudios de Cohortes , Comorbilidad , Síndrome de Down/complicaciones , Síndrome de Down/patología , Femenino , Hospitalización , Humanos , Unidades de Cuidados Intensivos , Longevidad/fisiología , Masculino , Persona de Mediana Edad , Pacientes Ambulatorios , Neumonía/complicaciones , Neumonía/patología , Infecciones del Sistema Respiratorio/complicaciones , Infecciones del Sistema Respiratorio/patología , Adulto JovenRESUMEN
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 Program (MGH DSP) from December 2018 to July 2019 with Patient Reported Outcomes Measurement Information System (PROMIS)® instruments of global health. Analyses included use of scoring manuals, descriptive statistics and dependent samples t test. RESULTS: Seventeen adolescents, 48 adults with DS and 88 caregivers returned surveys; 137 were complete. Incomplete responses and notes showed limitations of the instruments in this population. Global health T-scores did not differ from the available comparative standardized scores to these measures from PROMIS® reference population (p > 0.05). CONCLUSIONS: In the MGH DSP, pilot global health instruments were completed by some adults with DS and caregivers, with some limitations and scores similar to the PROMIS® reference population.
Asunto(s)
Síndrome de Down , Salud Global , Discapacidad Intelectual , Adolescente , Adulto , Humanos , Estudios Prospectivos , Calidad de Vida , Encuestas y CuestionariosRESUMEN
PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls. RESULTS: We identified 35 patients with DS and unexplained regression, with a mean age at regression of 17.5 years. Diagnostic features differed substantially between regression cases and matched controls (p < 0.001 for all but externalizing behaviors). Patients with regression had four times as many mental health concerns (p < 0.001), six times as many stressors (p < 0.001), and seven times as many depressive symptoms (p < 0.001). Tiered medical evaluation most often identified abnormalities in vitamin D 25-OH levels, polysomnograms, thyroid peroxidase antibodies, and celiac screens. Analysis of the subset of patients with nondiagnostic medical evaluations reinforced the proposed definition. CONCLUSIONS: Our case-control evidence supports a proposed definition of unexplained regression in Down syndrome. Establishing this clinical definition supports future research and investigation of an underlying mechanism.
Asunto(s)
Trastorno del Espectro Autista , Síndrome de Down , Adolescente , Estudios de Casos y Controles , Bases de Datos Factuales , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiología , Humanos , Adulto JovenRESUMEN
PURPOSE: Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to determine if macrocytosis masks the diagnosis of ID/IDA and to evaluate the utility of biochemical and red blood cell indices for detecting ID/IDA in DS. METHODS: We reviewed data from 856 individuals from five DS specialty clinics. Data included hemoglobin, mean corpuscular volume, red cell distribution width (RDW), percent transferrin saturation (TS), ferritin, and c-reactive protein. Receiver operating characteristic curves were calculated. RESULTS: Macrocytosis was found in 32% of the sample. If hemoglobin alone was used for screening, all individuals with IDA would have been identified, but ID would have been missed in all subjects. RDW had the highest discriminability of any single test for ID/IDA. The combination of RDW with ferritin or TS led to 100% sensitivity, and RDW combined with ferritin showed the highest discriminability for ID/IDA. CONCLUSION: We provide evidence to support that a CBC and ferritin be obtained routinely for children over 1 year old with DS rather than hemoglobin alone for detection of ID.
Asunto(s)
Anemia Ferropénica/diagnóstico , Síndrome de Down/metabolismo , Ferritinas/análisis , Anemia/diagnóstico , Proteína C-Reactiva/análisis , Niño , Preescolar , Índices de Eritrocitos/genética , Eritrocitos Anormales/metabolismo , Femenino , Ferritinas/sangre , Enfermedades Hematológicas/metabolismo , Hemoglobinas/análisis , Humanos , Lactante , Hierro/metabolismo , Masculino , Tamizaje Masivo/métodos , Curva ROCRESUMEN
BACKGROUND: Individuals with Down syndrome (DS) are less physically active than the general population, but limited data on objective physical activity patterns in adults with DS are available. METHODS: Free-living physical activity was measured by waist-worn accelerometry in adults with DS from 2018 to 2020. Data were analysed using descriptive statistics, bivariate and regression analyses. RESULTS: Fifty-two subjects provided valid accelerometer data, with 46% male and a majority (75%) overweight/obese. Median (± standard deviation) daily sedentary time was 393.5 ± 216.6 min, light activity was 150.7 ± 85.5 min, moderate activity was 6.3 ± 13.5 min, and vigorous activity was 0 ± 9.8 min. Subjects had 10.3 ± 4.8 sedentary bouts per day lasting on average 30.7 ± 62.0 min. Median daily step count was 3,050 ± 1,988. Adults living alone had more steps and light physical activity in adjusted analyses. CONCLUSION: Adults with DS engage in little health-enhancing physical activity and do not meet current physical activity recommendations in the United States.
Asunto(s)
Síndrome de Down , Discapacidad Intelectual , Acelerometría , Adulto , Ejercicio Físico , Femenino , Humanos , Masculino , Conducta Sedentaria , Estados UnidosRESUMEN
PURPOSE: Individuals with Down syndrome have an increased prevalence of various medical conditions across the lifespan; multidisciplinary Down syndrome specialty clinics can address these needs. However, the caregiver-perceived purpose of bringing their loved one to a Down syndrome specialty clinic has not been investigated. METHODS: Retrospective review of electronic intake forms, completed prior to visits at MGH's Down Syndrome Program, was completed. Caregiver concerns were coded and analyzed by visit type (new patient vs follow-up), age, gender, and race. RESULTS: Information from 722 unique patients (53.6% male) across 1,526 visits from 2014 to 2021 were reviewed resulting in 3,762 concerns. Caregivers of children with Down syndrome ages 0-4, and 13-39 reported a top concern of health maintenance which includes establishing patient care and preventative measures. Behavior was the top concern for caregivers of children with Down syndrome ages 5-12. For adults with Down syndrome, ages 40 years or older, neurologic considerations, including regression and dementia, was the top caregiver concern. Across the entire sample, the top three concerns did not vary by gender. CONCLUSION: The top concerns of caregivers of individuals with Down syndrome fluctuate across the lifespan. Growing multidisciplinary specialty clinics for Down syndrome may use these findings to ensure that caregivers' concerns are addressed and improve patient experience.
Asunto(s)
Cuidadores , Síndrome de Down , Adulto , Niño , Preescolar , Síndrome de Down/epidemiología , Síndrome de Down/terapia , Femenino , Humanos , Recién Nacido , Masculino , Pacientes , Estudios RetrospectivosRESUMEN
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, and life skills from an electronic intake form used in clinic procedures. Descriptive statistics for this cohort study included mean, standard deviation, and frequencies. From 2014-2020, 350 pediatric and 196 adult patients (range 0-62 years) with a first visit to the Massachusetts General Hospital Down Syndrome Program are described. Pediatric patients were most often enrolled in school, and in an inclusion setting. Adult patients were most often participating in a day program, living with family, and wanted to continue living with family in the future. Most (87%) of adults with DS communicated verbally, though fewer could use written communication (17%). Life skills of greatest importance to adolescents and adults with DS included: learning about healthy foods (35%), preparing meals (34%), providing personal information when needed (35%), and describing symptoms to a doctor (35%). Life skills for patients with DS are varied; those associated with a medical appointment, such as sharing symptoms with the doctor, could improve for greater independence.