Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood
Abstract
OBJECTIVE. The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains underdiagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neurobehavioral phenotype and brain abnormalities of this microdeletional syndrome. METHODS. We assessed neuromotor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. RESULTS. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages ∼3 to 5 years; sensory processing dysfunction; and neuromotor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. CONCLUSIONS. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely underdiagnosed condition.
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Cerebellar vermis hypoplasia has been noted in seven patients with 22q13 deletion syndrome, suggesting that SHANK3 may be involved in cerebellar development.
“Cerebellar vermis hypoplasia has been noted in seven patients with 22q13DS, suggesting that SHANK3 may be involved in cerebellar development [61, 62].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [62]
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- Authors
- Philippe, A., Boddaert, N., Vaivre-Douret, L., Robel, L., Danon-Boileau, L., Malan, V., de Blois, M.-C., Heron, D., Colleaux, L., Golse, B., Zilbovicius, M., & Munnich, A.
- Affiliations
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- National Institute of Health and Medical Research and Department of Psychiatry, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
- National Center for Scientific Research, Mixed Unit of Research 7114, Paris, France
- National Institute of Health and Medical Research and Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
- Department of Genetics, Pitié Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
- National Institute of Health and Medical Research, Mixed Unit of Research 0205, Atomic Energy Commission, Orsay, France
- Corresponding author
- Philippe, Anne
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2008-08-01
- Volume
- 122
- Issue
- 2
- Pages
- e376-e382
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W2093201160
- Cited by
- 108
- References
- 31
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2023: 10 · 2022: 6 · 2021: 8 · 2020: 9 · 2019: 6 · 2018: 4 · 2017: 7 · 2016: 5 · 2015: 5 · 2014: 8 · 2013: 8 · 2012: 10
- FWCI
- 3.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- Topics
- 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
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- neurodevelopmental disorders, neurobehavioral phenotype, hypotonia, language delay, sleep disorders, sensory processing disorders, corpus callosum abnormalities, pervasive developmental disorders, autism spectrum disorder, underdiagnosis, brain MRI, regional cerebral blood flow
- MeSH terms
- Brain Diseases, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, Cognition Disorders, Diagnostic Imaging, Female, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Intellectual Disability, Neuropsychological Tests, Prognosis, Psychology, Psychomotor Disorders, Speech Disorders, Cohort Studies, Positron-Emission Tomography
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