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Journal of Neurodevelopmental Disorders

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Open Access 01-12-2013 | Research

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

Authors: Akvile Lukoshe, Tonya White, Marcus N Schmidt, Aad van der Lugt, Anita C Hokken-Koelega

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2013

Abstract

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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Title: Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
Authors: Akvile Lukoshe
Tonya White
Marcus N Schmidt
Aad van der Lugt
Anita C Hokken-Koelega
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Journal of Neurodevelopmental Disorders / Issue 1/2013
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI: https://doi.org/10.1186/1866-1955-5-31

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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