Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome

the European Phelan-McDermid syndrome consortium, Margreet Walinga*, Sarah Jesse, Norma Alhambra, Griet Van Buggenhout

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

5 Citaten (Scopus)
41 Downloads (Pure)


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.

Originele taal-2English
Aantal pagina's5
TijdschriftEuropean journal of medical genetics
Nummer van het tijdschrift5
StatusPublished - mei-2023

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