新型精神科多病共存指标 MMS 应用于罕见遗传综合征：3q29 缺失与重复综合征患者评分显著低于对照

ImportanceRare genetic syndromes are often drivers of complex multimorbidity. However, current methods consider multimorbidity as the sum of chronic diagnoses, which does not account for subthreshold impairment. ObjectiveTo develop a quantitative multimorbidity score (MMS) for rare genetic syndromes that summarizes the neurodevelopmental and psychiatric multimorbidity landscape, including subthreshold symptoms, using 3q29 deletion and 3q29 duplication syndromes as hallmark examples. DesignWe developed a multimorbidity metric and applied it to cross-sectional data. Remote phenotyping from 2023-2026. In-person phenotyping from 2017-2020. SettingRemote phenotyping conducted at Rutgers University. In-person phenotyping conducted at Emory University. ParticipantsParticipants were 6 years of age and older. 3q29del and 3q29dup recruited from the 3q29 registry and direct referrals and contacts. Syndrome status confirmed by genetic report review. Typically developing controls recruited from community sources and ResearchMatch. Main Outcomes and MeasuresWe developed a quantitative MMS across five distinct domains of functioning, operationalized as the sum of z-scores across six standardized assessments. The MMS was calculated for each study participant and compared across groups. Within 3q29del, we evaluated the relationship between MMSs and Vineland-3 adaptive behavior. Results96 individuals with 3q29del (52.08% male, 18.01{+/-}11.47 years old), 28 individuals with 3q29dup (50.00% male, 20.82{+/-}13.64 years old), and 53 controls (41.51% male, 17.77{+/-}10.74 years old) were included. 3q29del and 3q29dup participants had significantly lower MMS scores compared to controls (3q29del mean=-8.22{+/-}4.67, 3q29dup mean=-6.47{+/-}4.66, control mean=1.36{+/-}2.35, 3q29del p<2E-16, 3q29dup p=4.89E-16). Within 3q29del, subjects with more severe multimorbidity had greater impairment in adaptive behavior (R2=0.589, p<2E-16). The quantitative MMS is more highly correlated with adaptive

中文翻译还没有生成，先显示原文。