title: Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.
abstract: BACKGROUND
  22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD.
  
  
  OBJECTIVE
  The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS.
  
  
  METHODS
  We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested.
  
  
  RESULTS
  The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group.
  
  
  CONCLUSIONS
  The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development.
authors.affiliation: Institute for Experimental Phonetics and Speech Pathology, Jovanova 35, Belgrade, Serbia; Life Activities Advancement Center, Jovanova 35, Belgrade, Serbia. Electronic address: masadanicic@gmail.com.
authors.forename: Marijana
authors.initials: M
authors.lastname: Rakonjac
authors.affiliation: Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000 Belgrade, Serbia; University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia. Electronic address: udkgenetika@udk.bg.ac.rs.
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11010 Belgrade, Serbia. Electronic address: milenastevanovic@imgge.bg.ac.rs.
authors.forename: Milena
authors.initials: M
authors.lastname: Stevanovic
authors.affiliation: Institute for Experimental Phonetics and Speech Pathology, Jovanova 35, Belgrade, Serbia; Life Activities Advancement Center, Jovanova 35, Belgrade, Serbia. Electronic address: lilijen@ymail.com.
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Jelicic
authors.affiliation: Institute for Experimental Phonetics and Speech Pathology, Jovanova 35, Belgrade, Serbia; Life Activities Advancement Center, Jovanova 35, Belgrade, Serbia. Electronic address: ifp2@ikomline.net.
authors.forename: Misko
authors.initials: M
authors.lastname: Subotic
authors.affiliation: Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000 Belgrade, Serbia; University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia. Electronic address: idaj@rcub.bg.ac.rs.
authors.forename: Ida
authors.initials: I
authors.lastname: Jovanovic
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11010 Belgrade, Serbia. Electronic address: danijeladrakulic@imgge.bg.ac.rs.
authors.forename: Danijela
authors.initials: D
authors.lastname: Drakulic
mesh_terms: D006348:Cardiac Surgical Procedures; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology; D005260:Female; D005838:Genotype; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics / Q000601:surgery*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007805:Language Development Disorders / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D012307:Risk Factors; D012720:Severity of Illness Index
keywords: 22q11.2DS; 5–10 year old children; Congenital heart malformations; Speech and language delay