Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome.

Area of Science:

• Neurodevelopmental Disorders
• Sensory Processing Research
• Genetics and Rare Diseases

Background:

• Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by SHANK3 gene mutations, is associated with significant alterations in sensory functioning.
• Distinctive sensory profiles in PMS differ from typically developing individuals and those with autism spectrum disorder (ASD).
• Understanding these unique sensory characteristics is crucial for targeted interventions and support.

Approach:

• Systematic review of current literature on sensory functioning in Phelan-McDermid syndrome.
• Analysis of sensory processing patterns, including hyporeactivity, hyperreactivity, and sensory seeking behaviors.
• Consensus-based recommendations developed by the European PMS consortium for caregivers.

Key Points:

• Individuals with PMS exhibit a unique sensory profile, characterized by more hyporeactivity and less hyperreactivity/sensory seeking, especially in the auditory domain.
• Common sensory features in PMS include hypersensitivity to touch, a tendency to overheat or flush easily, and a reduced response to pain.
• These findings highlight the specific sensory challenges faced by individuals with SHANK3-related disorders.

Conclusions:

• The sensory functioning in Phelan-McDermid syndrome presents distinct characteristics that warrant specific attention.
• Evidence-based recommendations are provided to support caregivers in managing the sensory needs of individuals with PMS.
• Further research into sensory processing in PMS can inform clinical practice and improve quality of life.