Brief report: Functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder

Journal of Autism and Developmental Disorders

Volumn 44, Issue 10, 2014, Pages 2608-2613

  Prontera, Paolo ^a   Serino, Domenico ^b   Caldini, Bernardo ^a   Scarponi, Laura ^a   Merla, Giuseppe ^c   Testa, Giuseppe ^d   Muti, Marco ^e   Napolioni, Valerio ^f   Mazzotta, Giovanni ^a   Piccirilli, Massimo ^a   Donti, Emilio ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^e S MARIA HOSPITAL   (Italy)

^f Genetics and Biology   (Italy)

Author keywords

7q11.23 Duplication; Amygdala; Autism spectrum disorders; Functional magnetic resonance; Limbic system; Magnetic resonance; Williams Beuren syndrome

Indexed keywords

ADAPTIVE BEHAVIOR; ADULT; ARTICLE; AUTISM; BRAIN DEVELOPMENT; BRAIN SIZE; CASE REPORT; CHROMOSOME 7Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EVALUATION STUDY; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENETIC SCREENING; HUMAN; LIMBIC SYSTEM; MALE; NUCLEAR MAGNETIC RESONANCE SCANNER; WILLIAMS BEUREN SYNDROME; YOUNG ADULT; ADOLESCENT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COMPLICATION; FEMALE; METABOLISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PROCEDURES; RESEARCH; WILLIAMS SYNDROME;

ADOLESCENT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; FEMALE; HUMANS; LIMBIC SYSTEM; MAGNETIC RESONANCE IMAGING; MALE; RESEARCH REPORT; WILLIAMS SYNDROME; YOUNG ADULT;

EID: 84912009889     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-014-2117-7     Document Type: Article

References (17)

1. 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.
2. Capitaõ, L., Sampaio, A., Sampaio, C., et al. (2011). MRI amygdale volume in Williams Syndrome. Research in Developmental Disabilities, 6, 2767–2772.
3. Levy, D., Ronemus, M., Yamrom, B., et al. (2011). Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70, 886–897.
4. 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.
5. Merla, G., Brunetti-Pierri, N., Micale, L., & Fusco, C. (2010). Copy number variants at Williams–Beuren syndrome 7q11.23 region. Human Genetics, 128, 3–26.
6. Meyer-Lindenberg, A., Mervis, C. B., & Berman, K. F. (2006). Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behaviour. Nature Reviews Neuroscience, 7, 380–393.
7. 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.
8. 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.
9. Reite, M., Reite, E., Collins, D., Teale, P., Rojas, D. C., & Sandberg, E. (2010). Brain size and brain/intracranial volume ratio in major mental illness. BMC Psychiatry, 10, 79.
10. Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., et al. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70, 863–885.
11. Somerville, M. J., Mervis, C. B., Young, E. J., et al. (2005). Severe expressive-language delay related to duplication of the Williams–Beuren locus. New England Journal of Medicine, 353, 1694–1701.
12. Torniero, C., dalla Bernardina, B., Novara, F., et al. (2007). Cortical dysplasia of the temporal lobe might explain severe expressivelanguage delay in patients with duplication of the Williams–Beuren locus. European Journal of Human Genetics, 15, 62–67.
13. Torniero, C., dalla Bernardina, B., Novara, F., et al. (2008). Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams–Beuren deletion. European Journal of Human Genetics, 16, 880–887.
14. Van der Aa, N., Rooms, L., Vandeweyer, G., et al. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52, 94–100.
15. Welberg, L. (2011). Autism: The importance of getting the dose right. Nature Reviews Neuroscience, 12, 429.
16. Williams, J. C., Barratt-Boyes, B. G., & Lowe, J. B. (1961). Supravalvular aortic stenosis. Circulation, 24, 1311–1318.
17. Woon, F. L., & Hedges, D. W. (2009). Amygdala volume in adults with posttraumatic stress disorder: A meta-analysis. The Journal of Neuropsychiatry and Clinical Neurosciences, 21, 5–12.