Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
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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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Neuropathological findings in Prader-Willi syndrome subjects include abnormal distribution of cells in the dentate and olivary nuclei, nerve degeneration in the dentate nucleus, cerebellar heterotopia, enlarged ventricles, reduced parieto-occipital lobe volume, multiple small gyri in the sylvian fissure, incompletely operculated insula, and smaller cerebellum and brainstem.
“Neuropathological findings in subjects with Prader-Willi syndrome include abnormal distribution of cells in the dentate and olivary nuclei, nerve degeneration in the dentate nucleus, cerebellar heterotopia [150], enlarged ventricles, reduced volume of parieto-occipital lobe, multiple small gyri in the sylvian fissure, incompletely operculated insula [239], and smaller cerebellum and brainstem [222”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [222]
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- Authors
- Lukoshe, A., White, T., Schmidt, M. N., van der Lugt, A., & Hokken-Koelega, A. C.
- Affiliations
- Erasmus MC (NL)
- Corresponding author
- Lukoshe, Akvile
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2013-10-22
- Volume
- 5
- Issue
- 1
- Pages
- 31-31
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC4015928
- OpenAlex
- W2106407098
- Cited by
- 49
- References
- 66
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 4 · 2021: 8 · 2020: 2 · 2019: 4 · 2018: 2 · 2017: 5 · 2016: 4 · 2015: 5 · 2014: 2
- FWCI
- 2.43
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Foundation for Prader-Willi Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Prader-Willi syndrome, genetic subtypes, maternal uniparental disomy, brain structure, brainstem volume, cerebellum, white matter volume, lateral ventricle, cerebrospinal fluid volume, cortical thickness, default mode network, cingulate cortex, precuneus, brain atrophy, children
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