The impact of Potocki-Lupski syndrome on sibling relationships

Detalhes bibliográficos
Autor(a) principal: Antunes, Marta
Data de Publicação: 2023
Outros Autores: Ferraz de Liz, Mariana, Correia , Zulmira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25753/BirthGrowthMJ.v32.i1.25110
Resumo: Introduction: Potocki-Lupski syndrome is a condition characterized by cognitive, behavioral, and medical manifestations caused by 17p11.2 duplication encompassing the RAI1 gene. Due to the significance that sibling relations acquire throughout life, changes in the health and functioning of one sibling affect the others. Case report: A 14-year-old boy, healthy sibling of a girl with Potocki-Lupski syndrome, attended the Child and Adolescent Psychiatry consultation due to maternal concerns about the impact of the sister’s disease on his well-being. On observation, despite looking relatively well adapted to the sister‘s condition, the boy showed sadness and shame regarding some of the sister‘s behaviors, particularly when occurring in public places, and great guilt towards them. Discussion/conclusion: The impact of the intellectual disability of a child on healthy siblings comprises negative and positive experiences. Therefore, it should be assessed in light of a network of influences and idiosyncrasies characteristic of family relationships.
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spelling The impact of Potocki-Lupski syndrome on sibling relationshipsImpacto da síndrome Potocki-Lupski na relação entre irmãosCase ReportsIntroduction: Potocki-Lupski syndrome is a condition characterized by cognitive, behavioral, and medical manifestations caused by 17p11.2 duplication encompassing the RAI1 gene. Due to the significance that sibling relations acquire throughout life, changes in the health and functioning of one sibling affect the others. Case report: A 14-year-old boy, healthy sibling of a girl with Potocki-Lupski syndrome, attended the Child and Adolescent Psychiatry consultation due to maternal concerns about the impact of the sister’s disease on his well-being. On observation, despite looking relatively well adapted to the sister‘s condition, the boy showed sadness and shame regarding some of the sister‘s behaviors, particularly when occurring in public places, and great guilt towards them. Discussion/conclusion: The impact of the intellectual disability of a child on healthy siblings comprises negative and positive experiences. Therefore, it should be assessed in light of a network of influences and idiosyncrasies characteristic of family relationships.Introdução: A síndrome de Potocki-Lupski caracteriza-se por manifestações cognitivas, comportamentais e clínicas causadas por duplicações da região 17p11.2 englobando o gene RAI1. Devido ao significado que as relações entre irmãos adquirem ao longo da vida, as mudanças na saúde e funcionamento de um irmão têm impacto nos restantes. Caso clínico: Um rapaz de 14 anos de idade, irmão saudável de uma rapariga com síndrome de Potocki-Lupski, foi observado em consulta de Pedopsiquiatria a pedido da mãe. Apesar de se apresentar relativamente bem adaptado à condição clínica da irmã, referiu tristeza e vergonha relativamente a alguns dos comportamentos exibidos por ela, principalmente quando estes ocorriam em locais públicos, bem como grande culpabilidade relativamente aos mesmos. Discussão/conclusão: O impacto da debilidade intelectual de uma criança nos irmãos saudáveis compreende vivências negativas e positivas, devendo por isso ser considerado à luz de uma rede de influências e idiossincrasias próprias das relações familiares.Centro Hospitalar Universitário de Santo António2023-06-23info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v32.i1.25110eng2183-9417Antunes, MartaFerraz de Liz, MarianaCorreia , Zulmirainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-06-29T17:00:23Zoai:ojs.revistas.rcaap.pt:article/25110Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:01:42.601696Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv The impact of Potocki-Lupski syndrome on sibling relationships
Impacto da síndrome Potocki-Lupski na relação entre irmãos
title The impact of Potocki-Lupski syndrome on sibling relationships
spellingShingle The impact of Potocki-Lupski syndrome on sibling relationships
Antunes, Marta
Case Reports
title_short The impact of Potocki-Lupski syndrome on sibling relationships
title_full The impact of Potocki-Lupski syndrome on sibling relationships
title_fullStr The impact of Potocki-Lupski syndrome on sibling relationships
title_full_unstemmed The impact of Potocki-Lupski syndrome on sibling relationships
title_sort The impact of Potocki-Lupski syndrome on sibling relationships
author Antunes, Marta
author_facet Antunes, Marta
Ferraz de Liz, Mariana
Correia , Zulmira
author_role author
author2 Ferraz de Liz, Mariana
Correia , Zulmira
author2_role author
author
dc.contributor.author.fl_str_mv Antunes, Marta
Ferraz de Liz, Mariana
Correia , Zulmira
dc.subject.por.fl_str_mv Case Reports
topic Case Reports
description Introduction: Potocki-Lupski syndrome is a condition characterized by cognitive, behavioral, and medical manifestations caused by 17p11.2 duplication encompassing the RAI1 gene. Due to the significance that sibling relations acquire throughout life, changes in the health and functioning of one sibling affect the others. Case report: A 14-year-old boy, healthy sibling of a girl with Potocki-Lupski syndrome, attended the Child and Adolescent Psychiatry consultation due to maternal concerns about the impact of the sister’s disease on his well-being. On observation, despite looking relatively well adapted to the sister‘s condition, the boy showed sadness and shame regarding some of the sister‘s behaviors, particularly when occurring in public places, and great guilt towards them. Discussion/conclusion: The impact of the intellectual disability of a child on healthy siblings comprises negative and positive experiences. Therefore, it should be assessed in light of a network of influences and idiosyncrasies characteristic of family relationships.
publishDate 2023
dc.date.none.fl_str_mv 2023-06-23
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25753/BirthGrowthMJ.v32.i1.25110
url https://doi.org/10.25753/BirthGrowthMJ.v32.i1.25110
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2183-9417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Centro Hospitalar Universitário de Santo António
publisher.none.fl_str_mv Centro Hospitalar Universitário de Santo António
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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