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

Published online by Cambridge University Press:  24 January 2002

Lena Niklasson
Affiliation:
Department of Child and Adolescent Psychiatry, University of Göteborg, Göteborg, Sweden.
Peder Rasmussen
Affiliation:
Department of Child and Adolescent Psychiatry, University of Göteborg, Göteborg, Sweden.
Sólveig Óskarsdóttir
Affiliation:
Department of Pediatrics, Sahlgrenska University Hospital, Queen Silvia Children's Hospital, Sweden.
Christopher Gillberg
Affiliation:
Department of Child and Adolescent Psychiatry, University of Göteborg, Göteborg, Sweden.
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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).

Type
Original Articles
Copyright
© 2002 Mac Keith Press

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