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Eur J Med Genet ; 66(5): 104726, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36796507

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Trastornos de los Cromosomas , Humanos , Trastorno del Espectro Autista/genética , Consenso , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Par 22/genética
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