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Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability
Ariel M Lyons-Warren1,2, Maria C McCormack1,2, Jimmy L Holder1,2
1Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Brain Sciences
|February 25, 2022
Summary
Children with Phelan-McDermid Syndrome (PMD) and SYNGAP1-related Intellectual Disability (SYNGAP1-ID) show significant sensory processing differences. These findings highlight common sensory abnormalities in syndromic autism spectrum disorders (ASDs).
Area of Science:
- Neurodevelopmental Disorders
- Autism Spectrum Disorders
- Sensory Processing
Background:
- Sensory processing differences are common in Autism Spectrum Disorders (ASDs).
- Syndromic ASDs like Phelan-McDermid Syndrome (PMD) and SYNGAP1-related Intellectual Disability (SYNGAP1-ID) may have unique sensory profiles.
- Understanding these profiles is crucial for care and mechanism elucidation.
Purpose of the Study:
- To determine sensory processing abnormalities in syndromic ASDs.
- Focus on Phelan-McDermid Syndrome (PMD) and SYNGAP1-related Intellectual Disability (SYNGAP1-ID).
Main Methods:
- Utilized the Short Sensory Profile-2 standardized instrument.
- Characterized sensory features in 41 patients with PMD and 24 patients with SYNGAP1-ID.
- Calculated sub-scores for seeking, avoiding, sensitivity, registration, and overall sensory/behavior.
Main Results:
- Both PMD and SYNGAP1-ID patient groups exhibited atypical sensory features.
- High scores were observed in the 'avoiding' and 'seeking' sensory areas.
- Significant sensory processing abnormalities are prevalent in these syndromic ASDs.
Conclusions:
- Syndromic autism spectrum disorders (ASDs) commonly present with significant sensory processing abnormalities.
- Sensory processing measurements can serve as valuable clinical endpoints for therapeutic trials.
- Further research into sensory phenotypes of syndromic ASDs is warranted.
Keywords:
Phelan-McDermid SyndromeSSP-2SYNGAP1-related Intellectual Disabilityneurodevelopmental disorderssensory processingMore Related Videos
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