Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability.

Ariel M Lyons-Warren,Jimmy L Holder,Maria C Mccormack

doi:10.3390/brainsci12020137

Abstract

Sensory processing differences are an established feature of both syndromic and non-syndromic Autism Spectrum Disorders (ASDs). Significant work has been carried out 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 their underlying mechanisms. Our objective in this work was to determine the sensory processing abnormalities present in two syndromic ASDs: Phelan-McDermid Syndrome and SYNGAP1-related Intellectual Disability. Using a standardized instrument, the Short Sensory Profile-2, we characterized sensory features in 41 patients with PMD and 24 patients with SYNGAP1-ID, and sub-scores were then calculated for seeking, avoiding, sensitivity and registration, as well as overall sensory and behavior scores. We found both patient groups exhibited atypical sensory features, including high scores in the areas of avoiding and seeking. Thus, we discovered significant sensory processing abnormalities are common in these syndromic ASDs. Measurements of sensory processing could serve as useful clinical endpoints for trials of novel therapeutics for these populations.

Highlights

Sensory processing, meaning how sensory signals, such as light, sound, touch, taste or smell are perceived, are commonly altered in many neurodevelopmental disorders [1,2]
Phelan-McDermid Syndrome (PMD) and Synaptic Ras GTPase-activating protein 1 (SYNGAP1)-Intellectual Disability (ID) Patients Perform Outside the Typical Range on the Short Sensory Profile 2
All SYNGAP1-ID patients and all but one PMD patient scored above the expected scoring range for behavior scores

Summary

Introduction

Sensory processing, meaning how sensory signals, such as light, sound, touch, taste or smell are perceived, are commonly altered in many neurodevelopmental disorders [1,2]. Sensory processing differences have been described in non-syndromic Autism Spectrum Disorders (ASDs) [3], tic disorders [4], Fragile X syndrome [5], attention deficit hyperactivity disorder [6] and a limited number of syndromic ASDs [7–10]. The specific sensory phenotypes and distributions of sensory differences vary across diseases. Sensory processing differences have been associated with difficulties in social and adaptive functioning [11–13]. Many neurodevelopmental disorders have similar or overlapping presentations, and subtle clinical differences, such as sensory features, can be helpful in making a diagnosis or guiding genetic testing [3,4,15]. Characterizing the sensory profiles for specific disorders is important for diagnosis and management

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