X marks the spot: Structural and functional brain mapping in a genetically defined group at high risk of autism symptoms (47,XXY), and a comparison with idiopathic autism spectrum disorder

Author(s):
Goddard, M.N.
Published
2015
Publication type
Doctoral Thesis

Abstract

Klinefelter syndrome (47,XXY) is

associated with a wide range of behavioral problems, including autism

symptomatology. In the current thesis, brain structure and function were

assesed in boys with 47,XXY, boys with idiopathic autism spectrum disorder, and non-clinical controls, using multiple imaging techniques. The goal was to assess the mechanisms underlying social dysfunction in 47,XXY, and to investigate to what degree these mechanisms differ from those in individuals with idiopathic autism. The results show that individuals with 47,XXY show characteristic deviations in brain structure and function associated with higher order cognitive functions, social emotional information processing, and language processing. Additionally, while boys with 47,XXY show considerable overlap with boys with idiopathic ASD in autism symptomatology, there are specific differences in the underlying neural mechanisms that revolve around the frontal lobes and insular cortices. These findings may have implications for intervention studies (e.g. focused on real time fMRI neurofeedback), as well as clinical practice. It may impact the selection of mental health care strategies that take into account this variability in mechanisms underlying social dysfunction in individuals with autism spectrum disorder.

Autism spectrum disorderKlinefelter syndrome47,XXYNeuroimagingSocial dysfunction
Defense date
2015-11-11
Language
English
Supervisor(s)
Swaab, H.
Advisor(s)
Rijn, S. van
Committee member(s)
Aleman, A.; Breuning, M.H.; Crone, E.A.M.; Egger, J.I.M.
Qualification
Ph.D.
Degree granting institution
Education and Child Studies, Faculty of Social and Behavioural Sciences, Leiden University, Leiden
hdl
1887/36118