RESUMEN
Williams syndrome (WS) is a multi-system condition caused by the deletion of 25-27 coding genes on human chromosome 7. Irritability, gastrointestinal (GI) reflux and slow growth are commonly reported in infants with WS, but less data exist regarding GI concerns in older children and adults with the condition. This study evaluates 62 individuals with WS (31 children aged 3-17, and 31 adults aged 18-62) as well as 36 pediatric and adult controls to assess current and historical rates of common GI symptoms. Data were evaluated using a regression model including age, sex, self-reported race, and diagnosis. Symptoms including food intolerance, reflux, dysphagia, choking/gagging, vomiting, constipation, bloating, diarrhea, hematochezia, rectal prolapse, abdominal pain, and weight loss are more common in those with WS relative to controls. In addition, people with WS utilize more GI medications, specialty care, procedures, and supplemental feeds. Among those with WS, symptoms were present at similar rates in children and adults, except for diverticular disease, which was not noted until adulthood. GI symptoms are frequent in people with WS and serve as a significant source of morbidity.
RESUMEN
INTRODUCTION: Unmet health-related social needs contribute to high patient morbidity and poor population health. A potential solution to improve population health includes the adoption of care delivery models that alleviate unmet needs through screening, referral, and tracking of patients in health care settings, yet the overall impact of such models has remained unexplored. This review addresses an existing gap in the literature regarding the effectiveness of these models and assesses their overall impact on outcomes related to experience of care, population health, and costs. METHODS: In March 2020, we searched for peer-reviewed articles published in PubMed over the past 10 years. Studies were included if they 1) used a screening tool for identifying unmet health-related social needs in a health care setting, 2) referred patients with positive screens to appropriate resources for addressing identified unmet health-related social needs, and 3) reported any outcomes related to patient experience of care, population health, or cost. RESULTS: Of 1,821 articles identified, 35 met the inclusion criteria. All but 1 study demonstrated a tendency toward high risk of bias. Improved outcomes related to experience of care (eg, change in social needs, patient satisfaction, n = 34), population health (eg, diet quality, blood cholesterol levels, n = 7), and cost (eg, program costs, cost-effectiveness, n = 3) were reported. In some studies (n = 5), improved outcomes were found among participants who received direct referrals or additional assistance with indirect referrals compared with those who received indirect referrals only. CONCLUSION: Effective collaborations between health care organizations and community-based organizations are essential to facilitate necessary patient connection to resources for addressing their unmet needs. Although evidence indicated a positive influence of screening and referral programs on outcomes related to experience of care and population health, no definitive conclusions can be made on overall impact because of the potentially high risk of bias in the included studies.