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儿童综合征自闭症患者及其照顾者的健康相关生活质量。

Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.

机构信息

Department of Preventive Medicine, University of Tennessee Health Science Center, Memphis, TN, USA.

The Centre for Addiction and Mental Health, Toronto, ON, Canada.

出版信息

J Autism Dev Disord. 2022 Mar;52(3):1334-1345. doi: 10.1007/s10803-021-05030-8. Epub 2021 May 3.

DOI:10.1007/s10803-021-05030-8
PMID:33937973
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8854255/
Abstract

Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in children diagnosed with three genetic disorders that strongly predispose to syndromic autism: Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1-related intellectual disability (SYNGAP1-ID). We find the most severely impacted dimension is physical functioning. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs.

摘要

自闭症儿童的生活质量明显低于其神经典型同龄人。尽管多项研究通过 PedsQL 等标准化调查量化了自闭症对健康相关生活质量 (HRQoL) 的影响，但没有一项研究专门调查综合征自闭症的影响。在这里，我们评估了被诊断患有三种遗传疾病的儿童的 HRQoL，这些疾病强烈倾向于综合征自闭症：Phelan-McDermid 综合征 (PMD)、Rett 综合征 (RTT) 和 SYNGAP1 相关智力障碍 (SYNGAP1-ID)。我们发现受影响最严重的维度是身体功能。引人注目的是，综合征自闭症导致的生活质量比其他慢性疾病（包括特发性自闭症）更差。这项研究表明，照顾者调查在确定表型方面具有实用性，这些表型可能成为遗传定义的 ASD 的临床终点的目标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/6cbd7ee3f810/10803_2021_5030_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/c206cba42a13/10803_2021_5030_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/511780dc9f98/10803_2021_5030_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/6cbd7ee3f810/10803_2021_5030_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/c206cba42a13/10803_2021_5030_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/511780dc9f98/10803_2021_5030_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5c9/8854255/6cbd7ee3f810/10803_2021_5030_Fig3_HTML.jpg

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本文引用的文献

1
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2
Integrated Functional Analysis Implicates Syndromic and Rare Copy Number Variation Genes as Prominent Molecular Players in Pathogenesis of Autism Spectrum Disorders.综合功能分析表明，综合征性和罕见拷贝数变异基因是自闭症谱系障碍发病机制中的重要分子因素。
Neuroscience. 2020 Jul 1;438:25-40. doi: 10.1016/j.neuroscience.2020.04.051. Epub 2020 May 12.
3
Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome.
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4
Comparative evaluation of the health utilities index mark 3 and the short form 6D: evidence from an individual participant data meta-analysis of very preterm and very low birthweight adults.健康效用指数标记 3 与简短 6D 量表的比较评估：来自极早产儿和极低出生体重成人个体参与者数据荟萃分析的证据。
Qual Life Res. 2023 Jun;32(6):1703-1716. doi: 10.1007/s11136-023-03344-x. Epub 2023 Jan 27.
5
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Children (Basel). 2022 Dec 30;10(1):73. doi: 10.3390/children10010073.
6
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5
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