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Review
. 2023 May;66(5):104726.
doi: 10.1016/j.ejmg.2023.104726. Epub 2023 Feb 14.

Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome

Margreet Walinga  1 , Sarah Jesse  2 , Norma Alhambra  3 ; European Phelan-McDermid syndrome consortium; Griet Van Buggenhout  4
Affiliations
Free article
Review

Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome

Margreet Walinga et al. Eur J Med Genet. 2023 May.
Free article

Abstract

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. In this paper the current literature on sensory functioning in PMS is reviewed and recommendations for caregivers, based on consensus within the European PMS consortium, are given.

Keywords: Guideline; Pain; Phelan-McDermid syndrome; SHANK3; Sensory dysfunction; Sensory processing disorder.

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