Toggle Main Menu Toggle Search

Open Access padlockePrints

Behavioural phenotype of Cornelia de Lange syndrome

Lookup NU author(s): Dr Thomas Berney, Dr Maggie Ireland, Professor Sir John Burn

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

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.


Publication metadata

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


Altmetrics

Altmetrics provided by Altmetric


Actions

Find at Newcastle University icon    Link to this publication


Share