Register for email alerts and news feeds:
This journal | BMJ Group
rss
Archives of Disease in Childhood 1999;81:333-336; doi:10.1136/adc.81.4.333
Copyright © 1999 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.
Arch Dis Child 1999;81:333-336 ( October )

Behavioural phenotype of Cornelia de Lange syndrome

T P Berneya, M Irelandb, J Burnb

a Fleming Nuffield Child Psychiatry Unit, Burden Terrace, Newcastle upon Tyne NE2 3AE, UK, b Department of Human Genetics, University of Newcastle upon Tyne

Correspondence to: Dr Berney.

Accepted 16 June 1999

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.


Key messages

  • 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




Keywords: Cornelia de Lange syndrome; behaviour; mental retardation; autism

© 1999 by Archives of Disease in Childhood
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?

This article has been cited by other articles:

  • Oliver, C., Arron, K., Sloneem, J., Hall, S. (2008). Behavioural phenotype of Cornelia de Lange syndrome: case-control study. Br. J. Psychiatry 193: 466-470 [Abstract] [Full Text]  
  • Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer-Onnes, I, Hennekam, R C M (2006). Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J. Med. Genet. 43: 568-575 [Abstract] [Full Text]  
  • Russell, P. S. S. (2006). Self-injurious Behavior to the Lower Extremities Among Children With Atypical Development: A Diagnostic and Treatment Algorithm. INT J LOW EXTREM WOUNDS 5: 10-17 [Abstract]  
  • Bresch, D. (2002). Beyond Wernicke's: A Lexicon of Eponyms in Psychiatry. J. Neuropsychiatry Clin. Neurosi. 14: 155-160 [Abstract] [Full Text]  
  • Rapin, I. (2001). An 8-Year-Old Boy With Autism. JAMA 285: 1749-1757 [Full Text]  
  • BERNEY, T. P. (2000). Autism -- an evolving concept. Br. J. Psychiatry 176: 20-25 [Abstract] [Full Text]  

This Article

Services
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Latest from ADC

 

ADC is co-owned by the RCPCH and is the official journal of the European Academy of Paediatrics

BMJ Careers - Latest Paediatrics and Paediatric Surgery Jobs

Paediatrics and Paediatric Surgery Jobs

Show me all >>