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.

Highlights

  • The diagnosis of autism spectrum disorders (ASDs) has increased dramatically over the past decade (Zablotsky et al, 2019)

  • Participants included 391 families with children diagnosed with genetic disorders which strongly predispose to autism; 213 (54.5%) of the participants were diagnosed with Phelan-McDermid syndrome (PMD), 148 (37.9%) with Rett syndrome (RTT), and 30 (7.7%) with SYNGAP1-intellectual disability (ID)

  • Through a validated and simple to administer survey, we discovered that children with genetic disorders which strongly predispose to syndromic autism have significantly lower health-related quality of life compared with their neurotypical peers or children with other chronic health disorders

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Summary

Introduction

The diagnosis of autism spectrum disorders (ASDs) has increased dramatically over the past decade (Zablotsky et al, 2019). Autism is diagnosed if the two main criteria are met: persistent deficits in social communication and restrictive or repetitive patterns of behaviour. Autism spectrum disorders are defined as either syndromic or non-syndromic. Children diagnosed with non-syndromic ASD meet the DSM-5 criteria without other significant somatic or neurologic manifestations. This constitutes the majority of individuals diagnosed with autism. Syndromic ASDs are diagnosed in individuals meeting DSM-5 criteria and manifesting somatic symptoms or additional neurologic phenotypes. Children with a clinical diagnosis of syndromic autism are more likely to have a genomic abnormality

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