Family perspectives on gaps in health care for people with Down syndrome

• Published in: American journal of medical genetics. Part A Vol. 188; no. 4; pp. 1160 - 1169
• Main Authors: King, Emily, Remington, Mason, Berger, Heidi
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-04-2022; Wiley Subscription Services, Inc
• Subjects: Ambulatory Care Facilities; clinical experience; Down syndrome; Down Syndrome - epidemiology; Down Syndrome - therapy; Down's syndrome; Health care; Health Care Costs; Humans; Patients; Resource allocation; Surveys and Questionnaires; trisomy 21; trisomy 21; clinical experience; Down syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.62635

Patients with Down syndrome (DS) have significant specialized healthcare needs. Our objective was to understand what families of patients with DS perceive to be the most pressing gaps in health care, barriers to attendance at a DS specialty clinic, and what they thought a specialty healthcare clinic for people with DS ought to include as part of the clinical package. A qualitative survey was distributed nationally through the online platform SurveyMonkey. We divided respondents into two groups: those who attended a DS specialty clinic (n = 141) and those who did not (n = 100). Data were cleaned and analyzed in RStudio 3.6.3. Results demonstrate that families value mental health services, therapies (e.g., physical therapy, occupational therapy, and speech therapy), developmental specialists, dietitians, and educational advocates. Lack of clear advertisement, especially within low‐income communities, a lack of awareness of DS specialty clinics, and travel time to clinics constituted significant barriers to care. These findings are arguably of benefit to those who direct DS specialty clinics because they offer direction for resource allocation in a time of increasing healthcare costs and financial scrutiny.