title: Disabilities and cognition in children and adolescents with 22q11 deletion syndrome.
abstract: The purpose of this study was to investigate cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome. Thirty-three children (15 females, 18 males; age range 3 to 19y, median 7y 6mo) with 22q11 deletion were investigated for growth, development, neurology, cognition, motor function, and participation (measured as handicap**). Half of the children had never crawled, although they had shuffled, and commencement of walking was delayed (mean 18mo, SD 6mo). Hypotonia was found in 25 and poor balance in 24 of the 33 children; 17 out of 27 had definite motor problems, including two with spastic hemiplegia. Intelligence quotient (IQ) range was 50 to 100. Eleven patients had an IQ below 70, and 15 between 70 and 84. Verbal IQ was higher than Performance IQ. Level of handicap within the study group was considered moderate, and all but one child had extra support at school. We conclude that children with 22q11 deletion syndrome have multiple neurological, motor, and cognitive problems. Although the severity and number of problems varies, the combination of impairments and disabilities results in a low level of participation.
authors.affiliation: The Queen Silvia Children's Hospital, Department of Paediatrics, Sahlgrenska Academy at Göteborg University, SE-416 85 Göteborg, Sweden. solveig.oskarsdottir@vgregion.se
authors.forename: S
authors.initials: S
authors.lastname: Oskarsdóttir
authors.forename: M
authors.initials: M
authors.lastname: Belfrage
authors.forename: E
authors.initials: E
authors.lastname: Sandstedt
authors.forename: G
authors.initials: G
authors.lastname: Viggedal
authors.forename: P
authors.initials: P
authors.lastname: Uvebrant
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004185:Disability Evaluation; D004519:Education, Special; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome