22q11.2 deletion syndrome (DS) is the most common chromosomal microdeletion syndrome and a leading cause of developmental delay, congenital heart disease, and varying degrees of T cell immunodeficiency. While most studies focus on diagnosis and childhood outcomes, understanding of adult complications and access to care remains limited. We explored the influence of geographic proximity vs. other socioeconomic factors on accessing complex specialty care and survival in adults.
We conducted a retrospective chart review of adults (>18 years) with confirmed 22q11.2DS seen at the 22q and You Center at Children’s Hospital of Philadelphia (CHOP) between 2001 and 2025. Exclusions included 22q11.2 duplication, residence more than 100 miles from CHOP, and no documented visit between 2001 and 2025.
Of 419 adults with 22q11.2DS, patients averaged 105 clinical visits over the 24-year study period and had a mean of 36 unique diagnoses. Most followed specialties (% of cohort, mean # visits) were cardiology (57%, 14), genetics (49%, 4), endocrinology (43%, 11), orthopedics (43%, 11), allergy/immunology (38%, 6), gastroenterology (26%, 13), pulmonology (14%, 11), and hematology/oncology (12%, 10). Over 60% of patients underwent diagnostic procedures, averaging 22 per patient. Our cohort demonstrated higher than national average rates of food allergy (21%, n = 86) and asthma (20%, n = 82), with allergic rhinitis occurring at rates comparable to national estimates (27%, n = 112). In contrast, eczema prevalence was lower at 3% (n = 11). Patients living within 25 miles of CHOP (n = 187) averaged 138 visits per patient, compared with 79 visits among those 26–100 miles of CHOP (n = 232; p<0.001). Overall, a shorter distance to CHOP was associated with an increased number of appointments, diagnoses, specialties involved, and diagnostic procedures. In contrast, socioeconomic status, measured by median household income for the zip code, was not associated with diagnostic burden or visit frequency.
Access to a tertiary comprehensive 22q center is associated with increased healthcare access and specialty longitudinal care. This is further emphasized by a lower mortality rate in our 22q11.2DS cohort (2%, n = 8) compared with the estimated overall mortality of 24% for inborn errors of immunity. Further study of adults with 22q11.2DS will describe the burden of persistent disease.
