Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.
J Autism Dev Disord
; 52(3): 1334-1345, 2022 Mar.
Article
in En
| MEDLINE
| ID: mdl-33937973
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Autistic Disorder
/
Chromosome Disorders
/
Autism Spectrum Disorder
/
Intellectual Disability
Type of study:
Diagnostic_studies
Aspects:
Patient_preference
Limits:
Child
/
Humans
Language:
En
Journal:
J Autism Dev Disord
Year:
2022
Document type:
Article
Affiliation country: