The impact of Potocki-Lupski syndrome on sibling relationships

Detalhes bibliográficos
Autor(a) principal: Antunes,Marta Pereira
Data de Publicação: 2023
Outros Autores: Liz,Mariana Ferraz de, Correia,Zulmira
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000100041
Resumo: Abstract 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.
id RCAP_199da013e71efdefe102d5bee51349ec
oai_identifier_str oai:scielo:S0872-07542023000100041
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling The impact of Potocki-Lupski syndrome on sibling relationshipsbehavior problemhealthy siblingintellectual disabilityPotocki-Lupski syndromeAbstract 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.Centro Hospitalar do Porto2023-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000100041Nascer e Crescer v.32 n.1 2023reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000100041Antunes,Marta PereiraLiz,Mariana Ferraz deCorreia,Zulmirainfo:eu-repo/semantics/openAccess2024-02-06T17:06:37Zoai:scielo:S0872-07542023000100041Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:53.870516Repositório 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
title The impact of Potocki-Lupski syndrome on sibling relationships
spellingShingle The impact of Potocki-Lupski syndrome on sibling relationships
Antunes,Marta Pereira
behavior problem
healthy sibling
intellectual disability
Potocki-Lupski syndrome
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 Pereira
author_facet Antunes,Marta Pereira
Liz,Mariana Ferraz de
Correia,Zulmira
author_role author
author2 Liz,Mariana Ferraz de
Correia,Zulmira
author2_role author
author
dc.contributor.author.fl_str_mv Antunes,Marta Pereira
Liz,Mariana Ferraz de
Correia,Zulmira
dc.subject.por.fl_str_mv behavior problem
healthy sibling
intellectual disability
Potocki-Lupski syndrome
topic behavior problem
healthy sibling
intellectual disability
Potocki-Lupski syndrome
description Abstract 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 2023-03-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000100041
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000100041
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000100041
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Centro Hospitalar do Porto
publisher.none.fl_str_mv Centro Hospitalar do Porto
dc.source.none.fl_str_mv Nascer e Crescer v.32 n.1 2023
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799137288836349952

Registros relacionados