RT Journal Article
SR Electronic
T1 Behavioural phenotype of Cornelia de Lange syndrome
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 333
OP 336
DO 10.1136/adc.81.4.333
VO 81
IS 4
A1 T P Berney
A1 M Ireland
A1 J Burn
YR 1999
UL http://adc.bmj.com/content/81/4/333.abstract
AB 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. Behaviour disturbance is common in Cornelia de Lange syndrome and becomes more frequent as mental retardation becomes more severe Typical features include hyperactivity, self injury, aggressive behaviour, and sleep disturbance Self injury was more frequent in those over 12 years age An autistic syndrome was a frequent finding, particularly in those with severe mental retardation