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Eur J Med Genet ; 66(5): 104726, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36796507

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtornos Cromossômicos , Humanos , Transtorno do Espectro Autista/genética , Consenso , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/diagnóstico , Deleção Cromossômica , Cromossomos Humanos Par 22/genética
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