Journal of autism and developmental disorders, 2014-10, Vol.44 (10), p.2608-2613
2014
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder
- Ist Teil von
- Journal of autism and developmental disorders, 2014-10, Vol.44 (10), p.2608-2613
- Ort / Verlag
- Boston: Springer US
- Erscheinungsjahr
- 2014
- Quelle
- Psychology & Behavioral Sciences Collection
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0162-3257eISSN: 1573-3432DOI: 10.1007/s10803-014-2117-7Titel-ID: cdi_proquest_journals_1562334499
- Format
- –
- Schlagworte
- Adolescent, Adolescents, Autism, Autism Spectrum Disorders, Behavior Rating Scales, Behavioral Science and Psychology, Biological and medical sciences, Brain, Brain Hemisphere Functions, Brief Report, Child, Child and School Psychology, Child clinical studies, Child Development Disorders, Pervasive - complications, Child Development Disorders, Pervasive - diagnosis, Child Development Disorders, Pervasive - metabolism, Chromosome aberrations, Cognitive Ability, Delayed Speech, Developmental disorders, Diagnostic Tests, Duplication, Empathy, Expressive Language, Female, Genetic Disorders, Hospitals, Humans, Infantile autism, Intelligence Quotient, Limbic System - metabolism, Limbic System - pathology, Magnetic Resonance Imaging - methods, Male, Males, Medical genetics, Medical sciences, Neurological Organization, Neurology, Neurosciences, Patients, Pediatrics, Pervasive Developmental Disorders, Pregnancy, Psychiatry, Psychology, Psychology. Psychoanalysis. Psychiatry, Psychopathology. Psychiatry, Public Health, Research Report, Resistance (Psychology), Short Term Memory, Social Behavior, Spatial Ability, Speech Therapy, Statistical Analysis, Symptoms (Individual Disorders), Test Results, Whites, Williams Syndrome - complications, Williams Syndrome - diagnosis, Williams Syndrome - metabolism, Young Adult