title: 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 approximately 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.
authors.affiliation: National Institute of Health and Medical Research and Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. anne.philippe@necker.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Philippe
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Laurence
authors.initials: L
authors.lastname: Vaivre-Douret
authors.forename: Laurence
authors.initials: L
authors.lastname: Robel
authors.forename: Laurent
authors.initials: L
authors.lastname: Danon-Boileau
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: de Blois
authors.forename: Delphine
authors.initials: D
authors.lastname: Heron
authors.forename: Laurence
authors.initials: L
authors.lastname: Colleaux
authors.forename: Bernard
authors.initials: B
authors.lastname: Golse
authors.forename: Monica
authors.initials: M
authors.lastname: Zilbovicius
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics; D015331:Cohort Studies; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D003952:Diagnostic Imaging / Q000379:methods*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D049268:Positron-Emission Tomography; D011379:Prognosis; D011584:Psychology; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics