Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10174/27123 https://doi.org/10.6000/2292-2598.2019.07.01.2 |
Resumo: | One of the major difficulties concerning Fragile X Syndrome has been early diagnosis enabling early intervention. The obstacle stems from the dismissal of signs that might raise suspicion that the syndrome is present and therefore subsequent diagnosis. The present research aims to validate a methodology employing retrospective home video analysis to explore possible early signs in children with Fragile X Syndrome. As part of this trial the videos of 6 children aged less than 30 months were analysed. We utilized a set formed by three behavioural analysis grids, mainly to analyse social attention, joint attention and sensory-motor development of said children. The retrospective home video analysis demonstrated its effectiveness in early sign identification. We verified that children with FXS had a non-social stimuli preference (e.g., prolonged visual fixation on objects), had difficulties directing attention to social stimuli (e.g., attention and response to name calling), demonstrating impairments in joint attention, and displayed prolong and repetitive interaction with objects as well as positive affective expressions. Our findings indicated that children with FXS seem to be able to discriminate between social and non-social stimuli (e.g., vocalization to people) and presented stereotypes behavior from 0 up till 30 months. Use of home videos is a potentially important methodology in identification of early sign. Identified signs from this study may serve as markers for medical referral to genetic diagnosis |
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Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos AnalysisFragile X SyndromeOne of the major difficulties concerning Fragile X Syndrome has been early diagnosis enabling early intervention. The obstacle stems from the dismissal of signs that might raise suspicion that the syndrome is present and therefore subsequent diagnosis. The present research aims to validate a methodology employing retrospective home video analysis to explore possible early signs in children with Fragile X Syndrome. As part of this trial the videos of 6 children aged less than 30 months were analysed. We utilized a set formed by three behavioural analysis grids, mainly to analyse social attention, joint attention and sensory-motor development of said children. The retrospective home video analysis demonstrated its effectiveness in early sign identification. We verified that children with FXS had a non-social stimuli preference (e.g., prolonged visual fixation on objects), had difficulties directing attention to social stimuli (e.g., attention and response to name calling), demonstrating impairments in joint attention, and displayed prolong and repetitive interaction with objects as well as positive affective expressions. Our findings indicated that children with FXS seem to be able to discriminate between social and non-social stimuli (e.g., vocalization to people) and presented stereotypes behavior from 0 up till 30 months. Use of home videos is a potentially important methodology in identification of early sign. Identified signs from this study may serve as markers for medical referral to genetic diagnosis2020-02-20T10:16:33Z2020-02-202019-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10174/27123http://hdl.handle.net/10174/27123https://doi.org/10.6000/2292-2598.2019.07.01.2por9-20https://ns1.6thsigmahosting.com/journals/journal-of-intellectual-disability-diagnosis-and-treatment/volume-7-number-1/82-abstract/jiddt/3570-abstract-identifying-early-developmental-profiles-in-children-with-fxs-a-retrospective-home-videos-analysisJournal of Intellectual Disability Diagnosis and Treatment7 (1)ndvfranco@uevora.ptCosta, NunoFranco, Vitorinfo: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:RCAAP2024-01-03T19:22:27Zoai:dspace.uevora.pt:10174/27123Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T01:17:16.895732Repositório 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 |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
title |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
spellingShingle |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis Costa, Nuno Fragile X Syndrome |
title_short |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
title_full |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
title_fullStr |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
title_full_unstemmed |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
title_sort |
Identifying Early Developmental Profiles in Children with FXS: A Retrospective Home Videos Analysis |
author |
Costa, Nuno |
author_facet |
Costa, Nuno Franco, Vitor |
author_role |
author |
author2 |
Franco, Vitor |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Costa, Nuno Franco, Vitor |
dc.subject.por.fl_str_mv |
Fragile X Syndrome |
topic |
Fragile X Syndrome |
description |
One of the major difficulties concerning Fragile X Syndrome has been early diagnosis enabling early intervention. The obstacle stems from the dismissal of signs that might raise suspicion that the syndrome is present and therefore subsequent diagnosis. The present research aims to validate a methodology employing retrospective home video analysis to explore possible early signs in children with Fragile X Syndrome. As part of this trial the videos of 6 children aged less than 30 months were analysed. We utilized a set formed by three behavioural analysis grids, mainly to analyse social attention, joint attention and sensory-motor development of said children. The retrospective home video analysis demonstrated its effectiveness in early sign identification. We verified that children with FXS had a non-social stimuli preference (e.g., prolonged visual fixation on objects), had difficulties directing attention to social stimuli (e.g., attention and response to name calling), demonstrating impairments in joint attention, and displayed prolong and repetitive interaction with objects as well as positive affective expressions. Our findings indicated that children with FXS seem to be able to discriminate between social and non-social stimuli (e.g., vocalization to people) and presented stereotypes behavior from 0 up till 30 months. Use of home videos is a potentially important methodology in identification of early sign. Identified signs from this study may serve as markers for medical referral to genetic diagnosis |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-01-01T00:00:00Z 2020-02-20T10:16:33Z 2020-02-20 |
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 |
http://hdl.handle.net/10174/27123 http://hdl.handle.net/10174/27123 https://doi.org/10.6000/2292-2598.2019.07.01.2 |
url |
http://hdl.handle.net/10174/27123 https://doi.org/10.6000/2292-2598.2019.07.01.2 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
9-20 https://ns1.6thsigmahosting.com/journals/journal-of-intellectual-disability-diagnosis-and-treatment/volume-7-number-1/82-abstract/jiddt/3570-abstract-identifying-early-developmental-profiles-in-children-with-fxs-a-retrospective-home-videos-analysis Journal of Intellectual Disability Diagnosis and Treatment 7 (1) nd vfranco@uevora.pt |
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info:eu-repo/semantics/openAccess |
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openAccess |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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