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

• DOI: 10.1007/s10803-021-05030-8
• Publication Date: 2021-05-03T20:18:04Z
• Authors: Corneliu Bolbocean; Fabiola N. Andújar; Maria McCormack; Bernhard Suter; J. Lloyd Holder
• Keywords: Neurotypical; Rett Syndrome

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