@article{65ac988721534d4eabd841e118b3a28e,
title = "Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome",
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, Sensory dysfunction, Sensory processing disorder, SHANK3",
author = "{the European Phelan-McDermid syndrome consortium} and Margreet Walinga and Sarah Jesse and Norma Alhambra and {Van Buggenhout}, Griet",
note = "Funding Information: We would like to thank the European Phelan-McDermid syndrome consortium. This guideline has been supported by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). Funding Information: ERN-ITHACA, who supported the work presented here in-kind, is partly co-funded by the Health Programme of the European Union . Additional funding was obtained from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575 . Funding Information: ERN-ITHACA, who supported the work presented here in-kind, is partly co-funded by the Health Programme of the European Union. Additional funding was obtained from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575.We would like to thank the European Phelan-McDermid syndrome consortium. This guideline has been supported by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). Publisher Copyright: {\textcopyright} 2023",
year = "2023",
month = may,
doi = "10.1016/j.ejmg.2023.104726",
language = "English",
volume = "66",
journal = "European journal of medical genetics",
issn = "1769-7212",
publisher = "ELSEVIER SCIENCE BV",
number = "5",
}