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Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects.

Journal article
Authors Lena Niklasson
Peder Rasmussen
Sólveig Oskarsdóttir
Christopher Gillberg
Published in Developmental Medicine and Child Neurology
Volume 44
Issue 1
Pages 44-50
ISSN 0012-1622
Publication year 2002
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Institute for the Health of Women and Children, Dept of Paediatrics
Pages 44-50
Language en
Keywords Abnormalities, Multiple, Genetics, Psychology, Adolescent, Adult, Attention, Attention Deficit Disorder with Hyperactivity, Etiology, Autistic Disorder, Etiology, Child, Child Behavior Disorders, Etiology, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, Genetics, Cleft Palate, Cognition Disorders, Etiology, Face, Abnormalities, Female, Heart Defects, Congenital, Humans, Hypocalcemia, Intelligence, Male, Social Behavior Disorders, Syndrome, Thymus Gland, Abnormalities, Pathology
Subject categories Medical and Health Sciences, Psychiatry

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).

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