Your browser doesn't support javascript.
loading
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome.
Walinga, Margreet; Jesse, Sarah; Alhambra, Norma; Van Buggenhout, Griet.
Afiliação
  • Walinga M; University of Groningen, University Medical Center Groningen, Dept. Genetics, Groningen, the Netherlands. Electronic address: m.j.walinga@umcg.nl.
  • Jesse S; University of Ulm, Department of Neurology, Ulm, Germany.
  • Alhambra N; Phelan-McDermid Association, Spain.
  • Van Buggenhout G; Department of Human Genetics, University Hospital Leuven, Belgium.
Eur J Med Genet ; 66(5): 104726, 2023 May.
Article em En | MEDLINE | ID: mdl-36796507
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
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos / Transtorno do Espectro Autista Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos / Transtorno do Espectro Autista Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article