努南综合征的纵向疗效。

IF 6.6 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2025-01-11 DOI:10.1016/j.gim.2025.101355

Alyssa L. Rippert , Rebecca Reef , Ashika Mani , Arianna K. Stefanatos , Rebecca C. Ahrens-Nicklas

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引用次数: 0

摘要

目的：努南综合征及相关疾病（NS）是影响约1:1000个体的多系统疾病。以前的自然历史研究是在广泛全面的基因检测之前进行的。这项研究提供了分子证实的NS参与者最新的纵向自然病史数据。方法：从分子证实的NS患者病历中提取综合医疗、发育和保健利用（HCU）数据。主要结局包括发展结局、课堂环境和HCU。结果：172例分子确诊NS患者共随访1142.2患者年。初步评估平均有3.7个器官系统受到影响。坐着、走路和用两个词短语说话都比以前的队列发生得早（p=0.003, p=0.001, p）。结论：与以前的队列相比，发育结局有所改善。预测结果可以识别出发育迟缓风险最高的人群，从而进行适当的干预。与同龄人相比，患有NS的儿童和青少年的HCU负担增加。需要多学科护理协调，以减轻医疗负担，改善患者和家属的健康。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Longitudinal outcomes in Noonan syndrome

Purpose

Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted before widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.

Methods

Comprehensive medical, developmental, and health care utilization (HCU) data were abstracted from the medical records of participants with molecularly confirmed NS. Primary outcomes included developmental outcomes, classroom setting, and HCU.

Results

A total of 172 patients with molecularly confirmed NS were followed for 1142.2 patient-years total. An average of 3.7 affected organ systems on initial evaluation. Sitting, walking, and talking in two-word phrases all occurred earlier than in previous cohorts (P = .003, P = .001, and P < .0001, respectively). Genotype influenced the age at milestones and classroom setting; feeding difficulties also influenced the age at milestones. HCU was significantly higher in patients with NS compared with peers (P < .0001) and highest in infancy and adolescence.

Conclusion

Developmental outcomes have improved compared with previous cohorts. Predictors of outcome may identify those at highest risk for developmental delay allowing for appropriate intervention. Children and adolescents with NS have an increased burden of HCU compared with their peers. Multidisciplinary care coordination is needed to decrease medical burden and improve health of patients and families.

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.