Swipe om te navigeren naar een ander artikel
The duplication of the Williams–Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.
Log in om toegang te krijgen
Met onderstaand(e) abonnement(en) heeft u direct toegang:
Buckner, R. L., Head, D., Parker, J., et al. (2004). A unified approach for morphometric and functional data analysis in young, old, and demented adults using automated atlas-based head size normalization: Reliability and validation against manual measurement of total intracranial volume. Neuroimage, 23, 724–738. PubMedCrossRef
Capitão, L., Sampaio, A., Sampaio, C., et al. (2011). MRI amygdala volume in Williams Syndrome. Research in Developmental Disabilities, 6, 2767–2772. CrossRef
Malisza, K. L., Clancy, C., Shiloff, D., et al. (2011). Functional magnetic resonance imaging of facial information processing in children with autistic disorder, attention deficit hyperactivity disorder and typically developing controls. International Journal of Adolescent Medicine and Health, 3, 269–277.
Minshew, N. J., & Keller, T. A. (2010). The nature of brain dysfunction in autism: Functional brain imaging studies. Current Opinion in Neurology, 2, 124–130. CrossRef
Prontera, P., Bartocci, A., Ottaviani, V., Isidori, I., Rogaia, D., Ardisia, C., et al. (2013). Aicardi syndrome associated with autosomal genomic imbalance: Coincidence or evidence for autosomal inheritance with sex-limited expression? Molecular Syndromology, 4, 197–202. PubMedCrossRefPubMedCentral
- Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder
- Springer US