[article] 
inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1334-1345

Titre :	Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers
Type de document :	Texte imprimé et/ou numérique
Auteurs :	C. BOLBOCEAN, Auteur ; F. N. ANDÚJAR, Auteur ; M. MCCORMACK, Auteur ; B. SUTER, Auteur ; J. L. HOLDER, Auteur
Article en page(s) :	p.1334-1345
Langues :	Anglais (eng)
Mots-clés :	Autism Spectrum Disorder/genetics  Autistic Disorder  Caregivers  Child  Chromosome Disorders/genetics  Humans  Intellectual Disability/diagnosis  Quality of Life  Autism spectrum disorder  Beach center family quality of life  Clinical research  Diabetes  Health related quality of life  Idiopathic autism  Intellectual disability  Pediatric quality of life inventory  Phelan-McDermid syndrome  Rett syndrome  SYNGAP1 related intellectual disability
Index. décimale :	PER Périodiques
Résumé :	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.
En ligne :	http://dx.doi.org/10.1007/s10803-021-05030-8
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

[article] Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers [Texte imprimé et/ou numérique] / C. BOLBOCEAN, Auteur ; F. N. ANDÚJAR, Auteur ; M. MCCORMACK, Auteur ; B. SUTER, Auteur ; J. L. HOLDER, Auteur . - p.1334-1345.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1334-1345

Mots-clés :	Autism Spectrum Disorder/genetics  Autistic Disorder  Caregivers  Child  Chromosome Disorders/genetics  Humans  Intellectual Disability/diagnosis  Quality of Life  Autism spectrum disorder  Beach center family quality of life  Clinical research  Diabetes  Health related quality of life  Idiopathic autism  Intellectual disability  Pediatric quality of life inventory  Phelan-McDermid syndrome  Rett syndrome  SYNGAP1 related intellectual disability
Index. décimale :	PER Périodiques
Résumé :	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.
En ligne :	http://dx.doi.org/10.1007/s10803-021-05030-8
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455