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

Researchers studied quality of life in children with three rare genetic conditions that cause autism: Phelan-McDermid syndrome, Rett syndrome, and SYNGAP1 disorder. They found these children have significantly lower quality of life than typical children, with physical challenges being the biggest problem. Surprisingly, these genetic forms of autism caused worse quality of life than regular autism or other chronic health conditions.

This 2022 study examined health-related quality of life (HRQoL) in children with three specific genetic syndromes associated with autism: Phelan-McDermid syndrome, Rett syndrome, and SYNGAP1-related intellectual disability. Using standardized PedsQL surveys completed by caregivers, researchers found that syndromic autism significantly impacts quality of life, with physical functioning being the most severely affected domain. Notably, children with syndromic autism showed worse quality of life outcomes compared to both neurotypical children and those with idiopathic autism or other chronic disorders. The findings suggest caregiver-reported outcome measures could be valuable for identifying treatment targets in genetically-defined autism spectrum disorders.

Clinicians should prioritize physical functioning assessments and interventions for children with syndromic autism. These findings support using standardized quality of life measures in clinical practice and suggest need for specialized care protocols that address the unique challenges of genetic autism syndromes.

Sample size not reported, limiting assessment of study power. Study type unclear. Limited to three specific genetic syndromes, so findings may not generalize to other syndromic autism conditions. Reliance on caregiver reports only, without direct patient perspectives.

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.