Health-related quality of life in individuals with syndromic autism spectrum disorders
Notice bibliographique
Résumé
ABSTRACT BACKGROUND 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 spectrum disorder on children’s HRQoL or on family quality of life. Here we evaluate HRQoL in children diagnosed with three syndromic Autism Spectrum Disorders (ASDs): Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1 -related intellectual disability ( SYNGAP1 -ID). METHODS A standardized online Pediatric Quality of Life Inventory (PedsQL 4.0) survey and the Beach Center Family Quality of Life Scale (FQOL) were administered to caregivers of children with PMD (n= 213), RTT (n= 148), and SYNGAP1 -ID (n= 30). The PedsQL 4.0 measures health-related quality of life in four dimensions: physical, emotional, social and school. The Beach Center Family Quality of Life Scale measures five dimensions: family interaction, parenting, emotional well-being, physical/material well-being and disability-related support. RESULTS For the PedsQL, the most severely impacted dimension in children with syndromic autism was physical functioning. In comparing individual dimensions among the genetically-defined syndromic autisms, individuals with RTT had significantly worse physical functioning, emotional and school scores than PMD. This finding is congruent with the physical regression typically associated with Rett syndrome. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. CONCLUSIONS The reduced HRQoL for children with syndromic autism spectrum disorders relative to other chronic childhood illnesses, likely reflects their lack of targeted therapies. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs. CONTRIBUTORS’ STATEMENT Dr. Bolbocean conceptualized and designed the study, designed the data collection instrument, collected data, performed data analysis, wrote and edited the manuscript. Ms. Andujar performed initial data analysis, drafted the initial manuscript and edited the manuscript. Ms. McCormack performed data analysis and edited the manuscript. Dr. Suter conceptualized and designed the study and made critical edits to the manuscript. Dr. Holder conceptualized and designed the study, designed the data collection instrument, performed data analysis, wrote and edited the manuscript. Table of contents summary In this study, we determine the impact of genetically-defined syndromic autism spectrum disorders on their health-related quality of life. What’s known on this subject Children with neurodevelopmental disorders, including autism, have severely impaired health-related quality of life. Systematic measurement of HRQoL in children with neurodevelopmental disorders through standardized instruments provides a holistic understanding of disease impact and therapeutic endpoint for clinical trials. What this study adds This study defines the impact of three genetically defined autism spectrum disorders: Rett syndrome, Phelan-McDermid syndrome and SYNGAP1 -related Intellectual Disability, on health-related quality of life. We find significantly greater impairment for syndromic ASDs than other neurodevelopmental disorders.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,002 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,001 | 0,000 |
| Science ouverte | 0,000 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,001 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».