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

被引：0

作者：

Corneliu Bolbocean

Fabiola N. Andújar

Maria McCormack

Bernhard Suter

J. Lloyd Holder

机构：

[1] University of Tennessee Health Science Center,Department of Preventive Medicine

[2] The Centre for Addiction and Mental Health,Division of Neurology and Developmental Neuroscience, Department of Pediatrics

[3] Jan and Dan Duncan Neurological Research Institute,Nuffield Department of Primary Care Health Sciences

[4] Texas Children’s Hospital,undefined

[5] Baylor College of Medicine,undefined

[6] Oxford University,undefined

来源：

Journal of Autism and Developmental Disorders | 2022年 / 52卷

关键词：

Autism spectrum disorder; Clinical research; Diabetes; Idiopathic autism; Intellectual disability; Pediatric quality of life inventory; Phelan-McDermid syndrome; Rett syndrome; related intellectual disability; Health related quality of life; Beach center family quality of life;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：1334 / 1345

页数：11

共 259 条

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