Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with
Akvile Lukoshe1,2, Suzanne E van Dijk3, Gerbrich E van den Bosch4
1Dutch Growth Research Foundation, Postbus 23068, 3001 KB Rotterdam, The Netherlands.
Insights
Prader-Willi syndrome (PWS) is linked to altered brain connectivity and significantly smaller pituitary glands in children. These neurobiological differences may contribute to the characteristic preoccupation with food in PWS.
Area of Science:
- Neuroscience
- Developmental Biology
- Endocrinology
Background:
- Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder.
- It is characterized by endocrine issues and hyperphagia, suggesting hypothalamic-pituitary dysfunction.
- Limited research exists on the hypothalamus's neurobiology and connectivity in PWS.
Purpose of the Study:
- To investigate anatomical differences in the hypothalamus, mammillary bodies, and pituitary gland in children with PWS.
- To examine resting-state functional connectivity of the hypothalamus in children with PWS.
Main Methods:
- Included 27 children with PWS and 28 controls.
- Performed manual volumetric segmentation of the hypothalamus, mammillary bodies, and pituitary gland.
- Conducted brain-wide functional connectivity analysis using hypothalamic masks.
Main Results:
- Children with PWS exhibited altered hypothalamic functional connectivity with lateral occipital complexes.
- PWS patients had a 50% smaller pituitary volume, irregular pituitary shape, and longer pituitary stalk.
- No volumetric differences were found in the hypothalamus or mammillary bodies.
Conclusions:
- Altered hypothalamic connectivity with lateral occipital complexes was observed in PWS.
- These regions are involved in food response and reward systems.
- This altered connectivity may contribute to the hyperphagia seen in Prader-Willi syndrome.
Background:
Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS.
Methods:
Twenty-seven children with PWS (13 DEL, 14 mUPD) and 28 typically developing children were included. Manual segmentations by a blinded investigator were performed to determine the volumes of the hypothalamus, mammillary bodies, and pituitary gland. In addition, brain-wide functional connectivity analysis was performed using the obtained masks of the hypothalamus.
Results:
Children with PWS showed altered resting state functional connectivity between hypothalamus and right and left lateral occipital complex, compared to healthy controls. In addition, children with PWS had on average a 50% smaller pituitary volume, an irregular shape of the pituitary, and a longer pituitary stalk. Pituitary volume did not increase in volume during puberty in PWS. No volumetric differences in the hypothalamus and mammillary bodies were found. In all subjects, the posterior pituitary bright spot was observed.
Conclusions:
We report altered functional hypothalamic connectivity with lateral occipital complexes in both hemispheres, which are implicated in response to food and reward system, and absence of connectivity might therefore at least partially contribute to the preoccupation with food in PWS.
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