Brief Report: Sensory processing phenotypes in Phelan-McDermid Syndrome and SYNGAP1-related Intellectual Disability

Sensory processing differences are an established feature of both syndromic and non-syndromic Autism Spectrum Disorders (ASD). Significant work has been done to characterize and classify specific sensory profiles in non-syndromic Autism. However, it is not known if syndromic Autism disorders such as Phelan-McDermid Syndrome (PMD) or SYNGAP1-related Intellectual Disability (SYNGAP1-ID) have unique sensory phenotypes. Understanding the sensory features of these disorders is important for providing appropriate care and for understanding the underlying mechanisms of the disorders. In this manuscript we use the Short Sensory Profile-2 to characterize sensory features in 41 patients with PMD and 24 patients with SYNGAP1-ID and compare their responses to both expected results for typically developing children and published sensory profiles for non-syndromic ASD.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

Funded in part by Bridge the Gap: SYNGAP1 Education and Research Foundation

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

Baylor College of Medicine Institutional Review Board

Read the rest of the article here: https://www.medrxiv.org/content/10.1101/2020.11.30.20241315v1