title: Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.
abstract: Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation.
authors.affiliation: Division of Anesthesia, Department of Anesthesia, Endoscopy and Cardiology, Instituto Nazionale Tumori "Fondazione G. Pascale" - IRCSS, Naples, Italy. Electronic address: m.cascella@istitutotumori.na.it.
authors.forename: Marco
authors.initials: M
authors.lastname: Cascella
authors.affiliation: Division of Infantile Neuropsychiatry, UOMI-Maternal and Infant Health, Asl NA 3 SUD, Torre del Greco, via Marconi, 66, 80059 Torre del Greco, NA, Italy.
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Muzio
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D003071:Cognition / Q000502:physiology*; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D013771:Tetralogy of Fallot / Q000209:etiology*
keywords: 22q11 deletion syndrome; Cognitive impairment; Deterioro cognitivo; DiGeorge syndrome; Intellectual disability disorders; Microdeletion syndrome; Síndrome de DiGeorge; Síndrome de deleción 22q11; Síndrome de microdeleción; Síndrome velocardiofacial; Tetralogy of Fallot; Tetralogía de Fallot; Trastornos de discapacidad intelectual; Velocardiofacial syndrome