title: Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.
abstract: Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales-2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.
authors.affiliation: Department of Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Ann.Swillen@uz.kuleuven.ac.be
authors.forename: Ann
authors.initials: A
authors.lastname: Swillen
authors.forename: Hilde
authors.initials: H
authors.lastname: Feys
authors.forename: Tamara
authors.initials: T
authors.lastname: Adriaens
authors.forename: Loes
authors.initials: L
authors.lastname: Nelissen
authors.forename: Luc
authors.initials: L
authors.lastname: Mertens
authors.forename: Marc
authors.initials: M
authors.lastname: Gewillig
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D016022:Case-Control Studies; D002657:Child Development; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D015897:Comorbidity; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D019957:Motor Skills Disorders / Q000209:etiology*