Journal of intellectual disability research : JIDR · 2026
Perceived Impact of a Dedicated Clinic for Adults With 22q11.2 Deletion Syndrome.
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Loo Joanne C Y, D'Arcy Samantha, Palmer Lisa D, Sivanandan Radhika, Heung Tracy, Ng Adonis, Corral Maria, Reyes Nikolai Gil D, Bassett Anne S
Аннотация
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: The results support the need for, and perceived value of, specialized clinics for adults with complex healthcare needs and their caregivers.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: The results support the need for, and perceived value of, specialized clinics for adults with complex healthcare needs and their caregivers.