Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
Abstract
The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had a psychiatric disorder. Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups.
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When 22q11 deletion cases with ASD were compared to those without, volumes of the whole brain, prefrontal cortex, cerebellum, and left amygdala were unchanged, but the right amygdala was enlarged.
“When cases with 22q11 deletion with ASD were compared to those without, volumes of the whole brain as well as prefrontal cortex, cerebellum and left amygdala were unchanged, but that of the right amygdala was enlarged [10].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [10]
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References 108 · Cited by 183
- Authors
- Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., AbdulSabur, N., Higgins, A. M., Shprintzen, R. J., & Kates, W. R.
- Affiliations
- SUNY Upstate Medical University (US)
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Corresponding author
- Antshel, Kevin M.
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 2006-12-19
- Volume
- 37
- Issue
- 9
- Pages
- 1776-1786
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- OpenAlex
- W2033447318
- Cited by
- 183
- References
- 108
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 4 · 2023: 2 · 2022: 5 · 2021: 7 · 2020: 10 · 2019: 6 · 2018: 11 · 2017: 9 · 2016: 9 · 2015: 15 · 2014: 10 · 2013: 13 · 2012: 20
- FWCI
- 5.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- State University of New York Upstate Medical University
- National Institute of Mental Health (MH 64824, R01MH064824, R01MH065481, MH 65481)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 22q11.2 deletion syndrome, 22q11.2 deletion, autism spectrum disorder, comorbidities, mental illness, amygdala volume, neuroanatomy, children
- MeSH terms
- Adaptation, Psychological, Adolescent, Amygdala, Autistic Disorder, Child, Chromosomes, Human, Pair 22, Cognition Disorders, DiGeorge Syndrome, Female, Humans, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Psychological Tests, Surveys and Questionnaires, Severity of Illness Index, Prevalence, Gene Deletion
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