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Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome

BACKGROUND: Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about developmental differences in brain structure in children with PWS. Thus, our aim w...

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Autores principales: Lukoshe, Akvile, White, Tonya, Schmidt, Marcus N, van der Lugt, Aad, Hokken-Koelega, Anita C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015928/
https://www.ncbi.nlm.nih.gov/pubmed/24144356
http://dx.doi.org/10.1186/1866-1955-5-31
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author Lukoshe, Akvile
White, Tonya
Schmidt, Marcus N
van der Lugt, Aad
Hokken-Koelega, Anita C
author_facet Lukoshe, Akvile
White, Tonya
Schmidt, Marcus N
van der Lugt, Aad
Hokken-Koelega, Anita C
author_sort Lukoshe, Akvile
collection PubMed
description BACKGROUND: Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about developmental differences in brain structure in children with PWS. Thus, our aim was to investigate global brain morphology in children with PWS, including the comparison between different genetic subtypes of PWS. In addition, we performed exploratory cortical and subcortical focal analyses. METHODS: High resolution structural magnetic resonance images were acquired in 20 children with genetically confirmed PWS (11 children carrying a deletion (DEL), 9 children with maternal uniparental disomy (mUPD)), and compared with 11 age- and gender-matched typically developing siblings as controls. Brain morphology measures were obtained using the FreeSurfer software suite. RESULTS: Both children with DEL and mUPD showed smaller brainstem volume, and a trend towards smaller cortical surface area and white matter volume. Children with mUPD had enlarged lateral ventricles and larger cortical cerebrospinal fluid (CSF) volume. Further, a trend towards increased cortical thickness was found in children with mUPD. Children with DEL had a smaller cerebellum, and smaller cortical and subcortical grey matter volumes. Focal analyses revealed smaller white matter volumes in left superior and bilateral inferior frontal gyri, right cingulate cortex, and bilateral precuneus areas associated with the default mode network (DMN) in children with mUPD. CONCLUSIONS: Children with PWS show signs of impaired brain growth. Those with mUPD show signs of early brain atrophy. In contrast, children with DEL show signs of fundamentally arrested, although not deviant brain development and presented few signs of cortical atrophy. Our results of global brain measurements suggest divergent neurodevelopmental patterns in children with DEL and mUPD.
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spelling pubmed-40159282014-05-10 Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome Lukoshe, Akvile White, Tonya Schmidt, Marcus N van der Lugt, Aad Hokken-Koelega, Anita C J Neurodev Disord Research BACKGROUND: Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about developmental differences in brain structure in children with PWS. Thus, our aim was to investigate global brain morphology in children with PWS, including the comparison between different genetic subtypes of PWS. In addition, we performed exploratory cortical and subcortical focal analyses. METHODS: High resolution structural magnetic resonance images were acquired in 20 children with genetically confirmed PWS (11 children carrying a deletion (DEL), 9 children with maternal uniparental disomy (mUPD)), and compared with 11 age- and gender-matched typically developing siblings as controls. Brain morphology measures were obtained using the FreeSurfer software suite. RESULTS: Both children with DEL and mUPD showed smaller brainstem volume, and a trend towards smaller cortical surface area and white matter volume. Children with mUPD had enlarged lateral ventricles and larger cortical cerebrospinal fluid (CSF) volume. Further, a trend towards increased cortical thickness was found in children with mUPD. Children with DEL had a smaller cerebellum, and smaller cortical and subcortical grey matter volumes. Focal analyses revealed smaller white matter volumes in left superior and bilateral inferior frontal gyri, right cingulate cortex, and bilateral precuneus areas associated with the default mode network (DMN) in children with mUPD. CONCLUSIONS: Children with PWS show signs of impaired brain growth. Those with mUPD show signs of early brain atrophy. In contrast, children with DEL show signs of fundamentally arrested, although not deviant brain development and presented few signs of cortical atrophy. Our results of global brain measurements suggest divergent neurodevelopmental patterns in children with DEL and mUPD. BioMed Central 2013 2013-10-22 /pmc/articles/PMC4015928/ /pubmed/24144356 http://dx.doi.org/10.1186/1866-1955-5-31 Text en Copyright © 2013 Lukoshe et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Lukoshe, Akvile
White, Tonya
Schmidt, Marcus N
van der Lugt, Aad
Hokken-Koelega, Anita C
Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
title Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
title_full Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
title_fullStr Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
title_full_unstemmed Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
title_short Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
title_sort divergent structural brain abnormalities between different genetic subtypes of children with prader–willi syndrome
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015928/
https://www.ncbi.nlm.nih.gov/pubmed/24144356
http://dx.doi.org/10.1186/1866-1955-5-31
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