22q11.2 deletion syndrome in diverse populations.

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world.

Relationship Between Opioid Prescriptions and Number of Chronic Pain Conditions in Women With Interstitial Cystitis.

OBJECTIVES: The aim of this study was to determine the relationship between opioid prescriptions and number of chronic pain conditions in women with interstitial cystitis (IC). METHODS: This was a cross-sectional study. Women diagnosed with IC based on International Classification of Diseases, Ninth Revision/Tenth Revision codes over an 11-year period (2010-2020) were identified from electronic medical records. Data on comorbidities and ambulatory opioid prescriptions were also extracted. Univariable and multivariable logistic regressions were used to assess the relationship between opioid prescriptions and the number and type of coexisting chronic pain conditions. RESULTS: Of the 1,219 women with IC, 207 (17%) had received at least 1 opioid prescription. The proportions of women with opioid prescriptions for no, 1, 2, and 3 or more coexisting chronic pain conditions were 13%, 20%, 28%, and 32%, respectively. On univariable analysis, factors significantly associated with opioid use were higher body mass index ( P < 0.001), depression ( P < 0.001), sleep disorder ( P < 0.001), endometriosis ( P < 0.05), chronic pelvic pain ( P < 0.001), fibromyalgia ( P < 0.05), joint pain ( P < 0.001), and number of coexisting chronic pain diagnoses ( P < 0.001). On multivariable analysis, opioid prescriptions remained significantly associated with the number of coexisting chronic pain diagnoses: 1 diagnosis (adjusted odds ratio [aOR], 1.8; 95% confidence interval [CI], 1.3-2.7), 2 diagnoses (aOR, 2.6; 95% CI, 1.6-4.3), 3 or more diagnoses (aOR, 2.5; 95% CI, 1.1-5.5), diagnosis of chronic pelvic pain (aOR, 2.1; 95% CI, 1.3-3.5), endometriosis (aOR, 2.4; 95% CI, 1.4-4.3), chronic joint pain (aOR, 1.8; 95% CI, 1.1-2.9), and sleep disorders (aOR, 2.4; 95% CI, 1.6-3.6). CONCLUSION: The likelihood of opioid prescriptions in women with IC increases with the number and type of coexisting chronic pain conditions and sleep disorders.