Perceived Impact of a Dedicated Clinic for Adults With 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11.2DS) is an under-recognized multi-system genetic condition. There are limited data available on the delivery of care for adults with 22q11.2DS or the experience of patients and caregivers.

At a dedicated multidisciplinary clinic for adults with 22q11.2DS, we distributed anonymous online surveys to adults with 22q11.2DS and their caregivers. We compared the results to those from a similar survey conducted before establishing the dedicated clinic using descriptive statistics with Benjamini-Hochberg adjustment for multiple comparisons.

A total of 149 responses were received from 40 adult-22q-respondents and 109 caregiver-respondents, with survey completion rates of 87.5% and 89.9%, respectively. Compared to pre-clinic survey results, a significantly greater proportion of non-neutral respondents agreed that medical services were easy to access and well coordinated (89/118, 75.4% vs. 25/50, 50.0%; adjusted p = 0.012) and that appropriate transition services were provided (84/113, 74.3% vs. 15/49, 30.6%; adjusted p = 0.001). A majority reported that the clinic improved access to other services and professionals (112/120, 93.3%) and shared comprehensible information (124/124, 100.0%). Supports provided by the social worker and dietitian were valued. 75/108 (69.4%) of all non-neutral respondents noted that external providers lacked sufficient information about 22q11.2DS. As before, the top challenges noted by both patients and caregivers were neuropsychiatric conditions.

The results support the need for, and perceived value of, specialized clinics for adults with complex healthcare needs and their caregivers.