Financial impact of a specialized Down syndrome clinic: Implications and support for institutional support of specialty care clinics

Individuals with Down syndrome (DS) have specific health care needs and require additional screening and surveillance for commonly associated conditions. The American Academy of Pediatrics (AAP) Committee on Genetics has provided clinical guidance in “Health Supervision for Children and Adolescents with Down Syndrome.” Many DS specialty centers (DSC) have been created, in part, to help ensure adherence to these guidelines. The primary purpose of this work is to determine the financial impact of a specialized DSC. A retrospective chart review was completed for all patients seen in DSC for fiscal year 2018 (June 2018–June 2019). Charts were reviewed to ascertain the financial impact of a DSC to a healthcare system by calculating total downstream charges (using CMS Chargemaster) as a surrogate marker for financial impact. Five-hundred-seventy-four patient encounters were conducted; 99 were new patient visits. Annual charges totaled $1,399,450. The 1–5-year-old age group accounted for greater than half of all charges. The greatest proportion of charges resulted from sleep studies and other diagnostic testing (55%). DS clinics are extremely helpful in ensuring that children receive guideline-based care. Taking into account downstream revenue, specialized DSCs are also financially beneficial to the institutions with whom they are affiliated.     

Healthcare experiences of patients with Down syndrome who are Black,African American,of African descent,or of mixed race

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.     

Low adherence to national guidelines for thyroid screening in Down syndrome

PurposeTo determine adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome among primary care providers in the states of Oklahoma and Nebraska.MethodsWe sought to identify all children with Down syndrome born in Oklahoma and Nebraska between 1994 and 2004 and review their medical records for evidence of thyroid screening. Patients were identified through a State Department of Health birth defects registry in Oklahoma and through participation in genetics clinics and laboratories in Nebraska and Oklahoma. Charts obtained from primary care providers were reviewed and the number of actual thyroid screens was compared with the number of recommended screens for each individual during the study period.ResultsIn Oklahoma, 13% of participating children received all thyroid screens recommended in the guidelines. In Nebraska, 14% of children received all recommended thyroid screenings. Among participants in Oklahoma, a mean of 34% of recommended thyroid screenings were performed. In Nebraska, a mean of 45% of recommended thyroid screenings were performed.ConclusionsThe level of adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome is low. Factors contributing to this low level of adherence need to be identified and addressed.     

Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome

PurposeIndividuals 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.MethodsRetrospective 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.ResultsInformation 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.ConclusionThe 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.     

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

PurposeAn entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease.MethodsSince 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.ResultsWe 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.ConclusionsOur 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.     

Effects of family health history-based colorectal cancer prevention education among non-adherent Chinese Americans to colorectal cancer screening guidelines

ObjectiveThis study examined the effects of the first family health history (FHH)-based colorectal cancer (CRC) prevention education on 1) FHH of CRC communication with family members and primary care physicians (PCPs), 2) fecal occult blood test (FOBT) uptake, and 3) CRC preventive lifestyle modifications among 50- to 75-year-old Chinese Americans non-adherent to CRC screening guidelines.MethodsUsing a community–based participatory research approach, we developed and implemented 62 culturally and linguistically appropriate, theory-driven, FHH-based CRC prevention educational workshops across Texas for 344 Chinese Americans (mostly with low education/income) aged 50–75 years who were non-adherent to CRC screening guidelines.ResultsLinear mixed modeling analyses showed that participants’ FHH of CRC communication with PCPs and family members significantly increased two-week post-workshop compared to pre-workshop data (ps<0.001). Moreover, at two-weeks post-workshop, 91.9 % of participants underwent FOBT. Nevertheless, no significant changes were found in participants’ lifestyles.ConclusionOur educational workshops successfully increased Chinese Americans’ FHH of CRC communication and FOBT uptake. Personalized education with longer follow-ups may be needed in future studies to promote lifestyle changes among Chinese Americans.Practice implicationsHealth and public health professionals may adopt our workshop educational materials to provide patient and public CRC prevention education for Chinese Americans.     

Use of Factor V Leiden genetic testing in practice and impact on management

PurposeTo assess the use of the genetic test for Factor V Leiden in clinical practice, physician adherence to national and local guidelines, and impacts of test results on patient management.MethodsChart review of all patients tested for Factor V Leiden during a 1-year period (2003) in a large nonprofit health care system (group health) (n = 272).ResultsThe test for Factor V Leiden was most often used in nonacute outpatient settings by primary care practitioners, in combination with other tests for procoagulant disorders. Testing was performed more broadly than recommended: 61% of tests met American College of Medical Genetics guidelines, 46% of tests met CAP guidelines, and 37% of tests met group health internal guidelines. The most common rationale for testing was to explain a clinical event (58%). Patient management was modified more often in heterozygotes (54%) than in those with normal results (13%) (P < 0.0001).ConclusionsThe uptake of the test for Factor V Leiden has not followed existing recommendations. Genetic risk information was used to influence patient management in the absence of supporting evidence related to health outcomes. These results underscore the importance of further research concerning effective prevention and treatment strategies for patients with genetic risk to help translate genetic risk information into improved health outcomes.     

Multicolored simplified asthma guideline reminder (MSAGR) for better adherence to national/global asthma guidelines.

BACKGROUND: Clinicians in general have not widely and consistently used asthma guidelines in their practices around the world. This study identifies reasons for the poor adherence to asthma guidelines by primary care physicians (PCPs), and simultaneously introduces multicolored simplified asthma guideline reminder (MSAGR) as a practical tool to enhance adherence to asthma guidelines. METHODS: Sixty-nine PCPs were given a simple, one-page, fill-in-the-blank questionnaire on the classification of asthma severity as defined in National Asthma Education and Prevention Program guidelines, using patients' symptoms, peak expiratory flow rate (PEFR)/forced expiratory volume in 1 second (FEV1) value, PEFR variability, and step therapy based on asthma severity. Also, they were given a questionnaire on barriers to using asthma guidelines and MSAGR for evaluation. In one targeted community, free copies of MSAGR were made available to PCPs, and data on emergency room visits and hospitalization of asthmatic patients were analyzed. RESULTS: Of the PCPs, 16% correctly classified mild, intermittent asthma, 13% mild, persistent asthma, 8% moderate, persistent asthma, and 8% severe, persistent asthma based on the combined patient's symptoms, PEFR or FEV1 value and PEFR variability as defined in National Asthma Education and Prevention Program guidelines. One hundred percent of the PCPs chose inhaled beta2-agonists as quick relief medication. Fifty percent of the PCPs chose inhaled steroids, leukotriene antagonists, oral theophylline, and long acting beta-agonists in various combinations for different severity of asthma. Eighty percent of the physicians failed to select the appropriate dosages of inhaled steroids for different severities of asthma. Ninety-five percent of PCPs reported that MSAGR made using the guidelines easier for them. In the targeted community, asthma-related emergency room visits decreased 22.5% and hospitalizations by 26.9%. CONCLUSIONS: This is the first study that identified the reasons for poor adherence to asthma guidelines by PCPs, and introduced MSAGR as a practical "low-tech" tool to promote better adherence to asthma guidelines. MSAGR presents patient-specific recommendations, based on asthma guidelines in a user-friendly format that can save the physician time in real-world primary care settings, where such information is often needed instantly. The overwhelming majority of PCPs strongly agreed that MSAGR helped them recall the classification of asthma severity in a timely manner, to inquire about various triggers, and to use step therapy accurately and confidently. In one targeted community, MSAGR helped clinicians in primary care settings to achieve better asthma outcomes and to reduce both emergency room visits and hospitalizations.     

Predictors of Seeking Psychotherapy in Primary Care Patients with High Somatic Symptom Burden

Abstract

Many primary care patients with high somatic symptom burden do not initiate mental health treatment. Using a cross-sectional design, this study aimed to identify predictors of psychotherapy seeking behavior for patients with high somatic symptom burden within the last 12 months. Data from 20 primary care practices were analyzed. Patients with high somatic symptom burden were identified using the Patient Health Questionnaire, structured interviews, and information from primary care physicians (PCPs). Within the final sample of 142 patients, 54 (38.03%) had been seeking psychotherapy. More severe somatic symptoms, taking psychopharmacological medication and frequently discussing psychosocial distress with PCPs, were associated with psychotherapy seeking behavior. Depressive and anxiety symptoms, and whether PCPs had diagnosed a somatoform disorder or recommended psychotherapy, were not. The results underline the importance of patient-related factors in psychotherapy seeking behavior.     

National down syndrome patient database: Insights from the development of a multi‐center registry study

The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced‐based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collected prospective, longitudinal data on medical conditions that co‐occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations. © 2015 Wiley Periodicals, Inc.     

International variation in adherence to referral guidelines for suspected cancer: a secondary analysis of survey data

Background

Variation in cancer survival persists between comparable nations and appears to be due, in part, to primary care practitioners (PCPs) having different thresholds for acting definitively in response to cancer-related symptoms.

Aim

To explore whether cancer guidelines, and adherence to them, differ between jurisdictions and impacts on PCPs’ propensity to take definitive action on cancer-related symptoms.

Design and setting

A secondary analysis of survey data from six countries (10 jurisdictions) participating in the International Cancer Benchmarking Partnership.

Method

PCPs’ responses to five clinical vignettes presenting symptoms and signs of lung (n = 2), colorectal (n = 2), and ovarian cancer (n = 1) were compared with investigation and referral recommendations in cancer guidelines.

Results

Nine jurisdictions had guidelines covering the two colorectal vignettes. For the lung vignettes, although eight jurisdictions had guidelines for the first, the second was covered by a Swedish guideline alone. Only the UK and Denmark had an ovarian cancer guideline. Survey responses of 2795 PCPs (crude response rate: 12%) were analysed. Guideline adherence ranged from 20–82%. UK adherence was lower than other jurisdictions for the lung vignette covered by the guidance (47% versus 58%; P <0.01) but similar (45% versus 46%) or higher (67% versus 38%; P <0.01) for the two colorectal vignettes. PCPs took definitive action least often when a guideline recommended a non-definitive action or made no recommendation. UK PCPs adhered to recommendations for definitive action less than their counterparts (P <0.01). There wasno association between jurisdictional guideline adherence and 1-year survival.

Conclusion

Cancer guideline content is variable between similarly developed nations and poor guideline adherence does not explain differential survival. Guidelines that fail to cover high-risk presentations or that recommend non-definitive action may reduce definitive diagnostic action.     

Mixed Methods Study of Patient and Primary Care Provider Perceptions of Chronic Pain Treatment

ObjectiveA mixed-method study involving patient focus groups and survey of primary care providers (PCPs) sought to compare perspectives about chronic pain (CP) and its treatment. Our goal was to identify needs and barriers for facilitating patient-centered care.MethodsTwo focus groups of CP patients from a single academic medical center explored interactions with PCPs and their understandings, experiences, and expectations of CP treatment. They were also asked their opinions about self-assessment/communication tools. We compared themes with survey data from two PCP research networks.ResultsCP patients understand opioid risks and fear PCP judgement and condescension, while sensing PCP fear and avoidance of opioid prescribing. PCPs are dissatisfied with their ability to provide optimal CP care, despite feeling that patients are generally satisfied with their clinic visits. Evaluation tools, especially assessment of functional activities, are favorably viewed by all, but deemed time prohibitive.ConclusionPatients’ understanding of opioid risks, desire for attention on functional goals and behavioral treatment may be greater than PCPs perceive. Such gaps in understanding and attitudes, if recognized, could support high-quality communication and interventional strategies.Practice ImplicationsThese findings guide patient-PCP communication toward alignment of treatment goals and enhanced coordination of care.     

‘You have a swelling’: The language of cancer diagnosis and implications for cancer management in Kenya

ObjectiveTo examine the ramifications of language as a vehicle of communication in the Kenyan healthcare system.Methods(1) A review of literature search on language access and health care in Kenya, using Scopus, Web of Science, Ebscohost, ProQuest and Google Scholar electronic databases. (2) Two illustrative case studies from a Nairobi based qualitative research project on family cancer caregivers’ experiences.ResultsEvidence from the case studies shows that language barriers may hinder understanding of cancer diagnoses and consequently, the nature of interventions sought by family members as informal caregivers of cancer patients.ConclusionFindings demonstrate the significance of language in understanding cancer diagnosis as a basis for treatment seeking behaviour and specifically in light of the critical role played by informal caregivers in under resourced health care contexts.Practice implications(1) The assumption that English and Swahili are adequate in communication in Kenyan health care contexts ought to be reviewed. (2) Further research and assessment of language needs as a basis for training of language interpreters in the Kenyan health care system is a necessity.     

Verbal communication among Alzheimer's disease patients, their caregivers, and primary care physicians during primary care office visits

Objective

Primary care visits of patients with Alzheimer's disease (AD) often involve communication among patients, family caregivers, and primary care physicians (PCPs). The objective of this study was to understand the nature of each individual's verbal participation in these triadic interactions.

Methods

To define the verbal communication dynamics of AD care triads, we compared verbal participation (percent of total visit speech) by each participant in patient/caregiver/PCP triads. Twenty-three triads were audio taped during a routine primary care visit. Rates of verbal participation were described and effects of patient cognitive status (MMSE score, verbal fluency) on verbal participation were assessed.

Results

PCP verbal participation was highest at 53% of total visit speech, followed by caregivers (31%) and patients (16%). Patient cognitive measures were related to patient and caregiver verbal participation, but not to PCP participation. Caregiver satisfaction with interpersonal treatment by PCP was positively related to caregiver's own verbal participation.

Conclusion

Caregivers of AD patients and PCPs maintain active, coordinated verbal participation in primary care visits while patients participate less.

Practice implications

Encouraging verbal participation by AD patients and their caregivers may increase the AD patient's active role and caregiver satisfaction with primary care visits.