| Affiliation: | 1. https://orcid.org/0000-0001-9178-4901;2. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark;3. Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark;4. Anne Skakkeb?k, Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.;5. Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark;6. Department of Internal Medicine, Lillebaelt Hospital, Kolding, Denmark;7. Department of Psychological and Brain Sciences, The George Washington University, Washington, DC, USA;8. Department of Linguistics, Cognitive Science, and Semiotics, Aarhus University, Aarhus, Denmark;9. Center of Functionally Integrative Neuroscience, Aarhus University Hospital, Aarhus, Denmark |
| Abstract: | Klinefelter syndrome (KS; 47,XXY) impacts neurodevelopment and is associated with an increased risk of cognitive, psychological and social impairments, although significant heterogeneity in the neurodevelopmental profile is seen. KS is characterized by a specific cognitive profile with predominantly verbal deficits, preserved function in non‐verbal and visuo‐spatial domains, executive dysfunction and social impairments, and by an increased vulnerability toward psychiatric disorders. The neurobiological underpinnings of the observed neuropsychological profile have not been established. A distinct pattern of both global and regional brain volumetric differences has been demonstrated in addition to preliminary findings of functional brain alterations related to auditory, motor, language and social processing. When present, the combination of cognitive, psychological and social challenges has the potential to negatively affect quality of life. This review intends to provide information and insight to the neuropsychological outcome and brain correlates of KS. Possible clinical intervention and future directions of research will be discussed. |
