雷特综合征患者的误吸、呼吸并发症及相关医疗资源利用情况

Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome.

作者信息

Rashid Nazia, Darer Jonathan D, Ruetsch Charles, Yang Xiaoyun

机构信息

Medical Affairs, Acadia Pharmaceuticals, 3611 Valley Centre Dr STE 300, San Diego, CA, 92130, USA.

Health Analytics, LLC, 6030 Daybreak Circle Suite 150 #351, Clarksville, MD, 21029, USA.

出版信息

Orphanet J Rare Dis. 2025 May 15;20(1):232. doi: 10.1186/s13023-025-03757-6.

DOI:10.1186/s13023-025-03757-6

PMID:40375331

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12082938/

Abstract

BACKGROUND

Individuals with Rett syndrome (RTT) are at high risk for aspiration and also experience high rates of lower respiratory tract infections (LRTI) and respiratory failure (RF).

METHODS

A retrospective comparative cohort analysis was performed among 89 individuals with RTT with and without evidence of aspiration, using EHR structured and abstracted clinical notes data. Individuals with known or suspected aspiration (per clinical documentation) (cases) were compared to controls on aspiration risk factors, RF, LRTI, and hospitalization.

RESULTS

Of eligible individuals, 25 (28.1%) were aspiration cases. The cumulative rate of RF among RTT individuals with and without aspiration was 60.0% and 6.3%, respectively. Aspiration cases were more likely to have risk factors compared to controls during the 6-month baseline including epilepsy (54.5% vs. 4.5%), dysphagia (40.9% vs. 0%), GERD (31.8% vs. 0.0%), scoliosis (31.8% vs. 4.5%), and vomiting (18.2% vs. 0.0%). Aspiration cases were more likely to have LRTI (50% vs. 5.0%) and ≥ 1 inpatient admissions than non-aspiration controls (75.0% vs. 35.0%) (all p < 0.05).

CONCLUSIONS

Individuals with RTT with known or suspected aspiration are at increased risk of LRTI, RF, and inpatient admissions. Providers should monitor aspiration and institute preventative measures among individuals with aspiration risk factors even in the absence of aspiration symptoms.

摘要

背景

患有雷特综合征（RTT）的个体发生误吸的风险很高，并且下呼吸道感染（LRTI）和呼吸衰竭（RF）的发生率也很高。

方法

使用电子健康记录（EHR）结构化和摘要临床笔记数据，对89例有或无误吸证据的RTT个体进行回顾性比较队列分析。将已知或疑似误吸（根据临床记录）的个体（病例）与对照组在误吸风险因素、RF、LRTI和住院情况方面进行比较。

结果

在符合条件的个体中，25例（28.1%）为误吸病例。有和无误吸的RTT个体中RF的累积发生率分别为60.0%和6.3%。在6个月的基线期内，与对照组相比，误吸病例更有可能存在风险因素，包括癫痫（54.5%对4.5%）、吞咽困难（40.9%对0%）、胃食管反流病（GERD）（31.8%对0.0%）、脊柱侧弯（31.8%对4.5%）和呕吐（18.2%对0.0%）。与无误吸的对照组相比，误吸病例更有可能发生LRTI（50%对5.0%）且住院≥1次（75.0%对35.0%）（所有p<0.05）。