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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.

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers’ initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support.

Purpose Dysphagia occurs as a component of a wide variety of diseases and conditions. When unrecognized or poorly managed, dysphagia can result in malnutrition, volume depletion, and reduced quality of life, as well as aspiration, pneumonia, and death. This document focuses specifically on oropharyngeal dysphagia. The modified barium swallow study (MBSS) is a fluoroscopic motion study used to evaluate oropharyngeal anatomy and swallowing physiology in real time. It is typically performed by a speech-language pathologist together with a radiologist and often assisted by a radiologic technologist. Because oropharyngeal dysphagia has such a varied presentation, the guidance to diagnose and treat oropharyngeal dysphagia in the United States falls under the purview of several professional societies and organizations. However, a thorough review of available practice guidelines and appropriateness criteria issued to date reveals a deficit of up-to-date, comprehensive, evidence-based information on the diagnosis and evaluation of oropharyngeal dysphagia. Specifically, a lack of quality guidance on the ordering, performance, and reporting of the MBSS has hindered efforts to improve standardization and ensure quality continuity of care. Method In 2019, a group with expertise in oropharyngeal dysphagia (speech-language pathologists, radiologists, and referring physicians) convened with the goal of specifying a core set of expert recommendations/best practices to achieve a high-quality MBSS. Results Here, we present the results of the participants' discussions and provide consensus recommendations regarding ordering, performing, and reporting an MBSS. Conclusion The overarching goal of this summary is to emphasize the need for and encourage the development of MBSS practice guidelines to support clinicians and patients.