title: Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects.
abstract: Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ <70. In 13 individuals, attention-deficit-hyperactivity disorder (ADHD), mainly inattentive or combined type in most cases, and/or autism spectrum problems were diagnosed. Many participants, even among those who had an IQ within the normal range and had neither ADHD nor autistic spectrum problems, showed a characteristic and pronounced behavioural profile with low mental energy, initiation difficulties, deficits in sustained attention, and social interaction (often augmented by limited facial expression and communication and speech problems).
authors.affiliation: Department of Child and Adolescent Psychiatry, University of Göteborg, Sweden. ann.nordstrom@pediat.gu.se
authors.forename: Lena
authors.initials: L
authors.lastname: Niklasson
authors.forename: Peder
authors.initials: P
authors.lastname: Rasmussen
authors.forename: Sólveig
authors.initials: S
authors.lastname: Oskarsdóttir
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000523:psychology*; D000293:Adolescent; D000328:Adult; D001288:Attention; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology; D001321:Autistic Disorder / Q000209:etiology; D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002972:Cleft Palate; D003072:Cognition Disorders / Q000209:etiology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D006996:Hypocalcemia; D007360:Intelligence; D008297:Male; D012920:Social Behavior Disorders; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities / Q000473:pathology