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Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome
Affiliation:1. University of Groningen, University Medical Center Groningen, Dept. Genetics, Groningen, the Netherlands;2. University of Ulm, Department of Neurology, Ulm, Germany;3. Phelan-McDermid Association, Spain;4. Department of Human Genetics, University Hospital Leuven, Belgium
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:Sensory dysfunction  Sensory processing disorder  Phelan-McDermid syndrome  SHANK3  Pain  Guideline
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