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A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation

Interstitial deletions of 7q11.23 cause the well-known Williams–Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual...

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Autores principales: Alfieri, Paolo, Scibelli, Francesco, Montanaro, Federica Alice Maria, Caciolo, Cristina, Bergonzini, Paola, Dentici, Maria Lisa, Vicari, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120542/
https://www.ncbi.nlm.nih.gov/pubmed/35599769
http://dx.doi.org/10.3389/fpsyt.2022.863909
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author Alfieri, Paolo
Scibelli, Francesco
Montanaro, Federica Alice Maria
Caciolo, Cristina
Bergonzini, Paola
Dentici, Maria Lisa
Vicari, Stefano
author_facet Alfieri, Paolo
Scibelli, Francesco
Montanaro, Federica Alice Maria
Caciolo, Cristina
Bergonzini, Paola
Dentici, Maria Lisa
Vicari, Stefano
author_sort Alfieri, Paolo
collection PubMed
description Interstitial deletions of 7q11.23 cause the well-known Williams–Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual spatial abilities, relatively preserved verbal expressive skills, anxiety problems, enhanced social motivation (i.e., hypersociable behaviors) and socio-communicative problems. Children with Dup7 syndrome exhibit some “inverted” features when compared to those of individuals with WBS, such as reduced social motivation and impairment of expressive language. Direct comparison of WBS and Dup7 represents a unique opportunity for the neurobehavioral characterization of the 7q11.23 section. However, most of the available data come from qualitative analysis between different studies. To the best of our knowledge, there are no studies directly comparing features of two matched samples of individuals with WBS and Dup7 syndromes. In this pilot study, we compare the adaptive functioning – measured with the Vineland Adaptive Behavior Scales, Second Edition – of two relatively small samples of children with molecularly confirmed diagnosis of WBS and Dup7 matched for IQ and chronological age, with a particular attention to socialization domain and expressive subdomain. Contrary to our assumption, we have not found any significant difference on socialization domain and expressive subdomains. This pilot investigation suggests that, when matched for chronological age and cognitive level, children with WBS and Dup7 share more similarities than expected. The inverted features that emerge in clinical settings on expressive language and social motivation seem not to differently interfere with the daily abilities to communicate and socialize with meaningful others during daily lives. Differences highlighted by previous undirected comparisons could be due to general and non-specific factors such as cognitive level, which is more severely impaired in individuals with WBS than Dup7. Implications for assessment and treatment are discussed.
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spelling pubmed-91205422022-05-21 A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation Alfieri, Paolo Scibelli, Francesco Montanaro, Federica Alice Maria Caciolo, Cristina Bergonzini, Paola Dentici, Maria Lisa Vicari, Stefano Front Psychiatry Psychiatry Interstitial deletions of 7q11.23 cause the well-known Williams–Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual spatial abilities, relatively preserved verbal expressive skills, anxiety problems, enhanced social motivation (i.e., hypersociable behaviors) and socio-communicative problems. Children with Dup7 syndrome exhibit some “inverted” features when compared to those of individuals with WBS, such as reduced social motivation and impairment of expressive language. Direct comparison of WBS and Dup7 represents a unique opportunity for the neurobehavioral characterization of the 7q11.23 section. However, most of the available data come from qualitative analysis between different studies. To the best of our knowledge, there are no studies directly comparing features of two matched samples of individuals with WBS and Dup7 syndromes. In this pilot study, we compare the adaptive functioning – measured with the Vineland Adaptive Behavior Scales, Second Edition – of two relatively small samples of children with molecularly confirmed diagnosis of WBS and Dup7 matched for IQ and chronological age, with a particular attention to socialization domain and expressive subdomain. Contrary to our assumption, we have not found any significant difference on socialization domain and expressive subdomains. This pilot investigation suggests that, when matched for chronological age and cognitive level, children with WBS and Dup7 share more similarities than expected. The inverted features that emerge in clinical settings on expressive language and social motivation seem not to differently interfere with the daily abilities to communicate and socialize with meaningful others during daily lives. Differences highlighted by previous undirected comparisons could be due to general and non-specific factors such as cognitive level, which is more severely impaired in individuals with WBS than Dup7. Implications for assessment and treatment are discussed. Frontiers Media S.A. 2022-05-06 /pmc/articles/PMC9120542/ /pubmed/35599769 http://dx.doi.org/10.3389/fpsyt.2022.863909 Text en Copyright © 2022 Alfieri, Scibelli, Montanaro, Caciolo, Bergonzini, Dentici and Vicari. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Psychiatry
Alfieri, Paolo
Scibelli, Francesco
Montanaro, Federica Alice Maria
Caciolo, Cristina
Bergonzini, Paola
Dentici, Maria Lisa
Vicari, Stefano
A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation
title A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation
title_full A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation
title_fullStr A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation
title_full_unstemmed A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation
title_short A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation
title_sort comparison of adaptive functioning between children with duplication 7 syndrome and williams-beuren syndrome: a pilot investigation
topic Psychiatry
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120542/
https://www.ncbi.nlm.nih.gov/pubmed/35599769
http://dx.doi.org/10.3389/fpsyt.2022.863909
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