Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study

Area of Science:

• Neuroscience
• Genetics
• Developmental Psychology

Background:

• Phelan-McDermid syndrome (PMS) is a genetic disorder linked to SHANK3 gene mutations, often presenting with sensory processing anomalies.
• Previous research indicates sensory processing difficulties in PMS are associated with underresponsiveness/seeking sensation, low energy, and tactile hyporeactivity, affecting communication and interaction behaviors.

Purpose of the Study:

• To define the sensory profile of patients with Phelan-McDermid syndrome.
• To investigate the relationship between sensory patterns and adaptive behavior in PMS patients.

Main Methods:

• A cross-sectional study involving 51 Spanish patients with genetically confirmed PMS.
• Parents completed the Short Sensory Profile-Spanish (SSP-S) and Adaptive Behavior Assessment System II (ABAS-II).
• Statistical analyses included correlational, regression, and hierarchical cluster analyses.

Main Results:

• Nearly 75% of PMS patients exhibited an atypical sensory profile, with notable differences in tactile sensitivity, sensation seeking, auditory filtering, and energy levels.
• Extremely low scores were observed in conceptual, social, and practical adaptive behavior domains (GAC <70).
• Significant correlations (p<0.005) were found between higher SSP-S scores and better adaptive skills across all measured domains.

Conclusions:

• Patients with Phelan-McDermid syndrome demonstrate atypical sensory profiles that correlate with limitations in general adaptive behaviors.
• Larger SHANK3 deletion sizes are associated with more severe sensory processing difficulties and poorer adaptive skills.