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Lookup NU author(s): Dr Thomas Berney, Dr Maggie Ireland, Professor Sir John BurnORCiD
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A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD, 7.8) and the degree of mental retardation from borderline (10%), through mild (8%), moderate (18%), and severe (20%) to profound (43%). A wide variety of symptoms occurred frequently, notably hyperactivity (40%), self injury (44%), daily aggression (49%), and sleep disturbance (55%). These correlated closely with the presence of an autistic like syndrome and with the degree of mental retardation. The frequency and severity of disturbance, continuing beyond childhood, is important when planning the amount and duration of support required by parents.
Author(s): Berney TP, Ireland M, Burn J
Publication type: Article
Publication status: Published
Journal: Archives of Disease in Childhood
Year: 1999
Volume: 81
Issue: 4
Pages: 333-336
Print publication date: 01/10/1999
ISSN (print): 0003-9888
ISSN (electronic): 1468-2044
Publisher: B M J Group
URL: http://dx.doi.org/10.1136/adc.81.4.333
DOI: 10.1136/adc.81.4.333
PubMed id: 10490439
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