Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome

European Journal of Medical Genetics(2023)

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摘要
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS. More hyporeactivity symptoms and less hyperreactivity and sensory seeking behaviour are seen, particularly in the auditory domain. Hypersensitivity to touch, possible overheating or turning red easily and reduced pain response are often seen.
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关键词
Sensory dysfunction,Sensory processing disorder,Phelan-McDermid syndrome,SHANK3,Pain,Guideline
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