Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study.

PURPOSE: To assess the population-based incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism (and associated variants) and describe the associated mortality pattern. In addition, a systematic literature review of papers providing prevalence data of 45,X/46,XY mosaicism was performed. METHODS: A population-based epidemiological study of all individuals diagnosed with 45,X/46,XY mosaicism between 1960 and 2019. Mortality was analyzed using data from the Danish Causes of Death Register. One-hundred randomly age- and sex-matched general population controls per case were identified for comparison. RESULTS: One-hundred-thirty-seven males and 46 females with 45,X/46,XY mosaicism were identified. The apparent prevalence was 5.6 per 100,000 liveborn males and 2.1 per 100,000 liveborn females. The incidence of males with 45,X/46,XY increased during the study (P > .0001) but was stable for females (P = .4). Males were significantly older than females when diagnosed (median age = 29.1, interquartile range: 3.4-41.3) years versus 13.3 (interquartile range: 2.1-19.1) years, P = .002). All-cause mortality was doubled in males with 45,X/46,XY (Hazard Ratio = 2.0, 95% confidence interval: 1.2-3.3) and quadrupled in females (Hazard Ratio = 4.0, confidence interval: 2.0-7.9). CONCLUSION: The apparent population-based prevalence of males and females with 45,X/46,XY is 5.6 and 2.1 per 100,000 liveborn males and females, respectively. Diagnosis of males with 45,X/46,XY males is increasing. 45,X/46,XY mosaicism is associated with an increased all-cause mortality.

Validation of ratings on the six-item Positive and Negative Syndrome Scale obtained via the Simplified Negative and Positive Symptoms Interview among outpatients with schizophrenia.

BACKGROUND: The six-item Positive and Negative Syndrome Scale (PANSS-6) is a measure of the severity of core symptoms of schizophrenia, which can be administered via the brief Simplified Negative and Positive Symptoms Interview (SNAPSI). A recent study has confirmed the validity of PANSS-6 ratings as derived by SNAPSI (PANSS-6SNAPSI) among inpatients with schizophrenia. AIMS: We aimed to test the validity of PANSS-6SNAPSI among outpatients with schizophrenia using PANSS-6 ratings extracted from the 30-item PANSS-30 as derived by the Structured Clinical Interview for the Positive and Negative Syndrome Scale (PANSS-6SCI-PANSS) as a gold standard reference. METHODS: PANSS-6SNAPSI and PANSS-6SCI-PANSS ratings were obtained at two time points by independent raters with established inter-rater reliability. Agreement between PANSS-6SNAPSI and PANSS-6SCI-PANSS ratings was estimated via intra-class coefficients (ICCs) and responsiveness over time was quantified using Spearman's rank correlation coefficients. Post hoc "leave-one-out" analyses were carried out, in which each rater in turn was excluded from the ICC calculations. RESULTS: Seventy-three outpatients with schizophrenia participated in the study (mean age: 38.3 years; 56% males). The ICC for PANSS-6SNAPSI versus PANSS-6SCI-PANSS was 0.67 [95%CI = 0.56-0.76] and the Spearman's rank correlation coefficient for responsiveness was 0.40 (p = 0.004). When data from a specific outlying rater were excluded, the ICC for PANSS-6SNAPSI versus PANSS-6SCI-PANSS was 0.75 [95% CI = 0.63-0.83] and the Spearman's rank correlation coefficient for responsiveness was 0.55 (p = 0.018). CONCLUSIONS: We found PANSS-6SNAPSI ratings to have acceptable clinical validity, suggesting that PANSS-6SNAPSI can be used for both inpatients and outpatients with schizophrenia.