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Cornelia De Lange syndrome
Psychological and behavioural characteristics
The Psychological and behavioural characteristics information below was last updated March 2004 by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK and Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK with further information provided by Professor C Oliver, School of Psychology,University of Birmingham, Birmingham, UK.
Most of the children with Cornelia de Lange syndrome have moderate or severe learning difficulties, but some have borderline or low average cognitive abilities. All have delayed or limited speech development and perhaps as many as a third never develop more than a few words. In contrast, nonverbal visuospatial and fine motor skills are relative strengths. As they develop, many individuals are able to cope with their everyday needs, including eating, toileting and dressing, and they continue to acquire new skills into their late teens. Some adults are able to live in relatively independent settings.
Individuals with Cornelia de Lange syndrome show great variability in their behaviour, but there are common features. Some are placid and good-natured, but many are described as restless, overactive, distractible and irritable. Often, even those with well-developed vocabularies are not talkative. Many show autistic features, including diminished ability to relate socially, infrequent facial expression of emotion, rejection of physical contact, little reaction to sounds or to pain, and repetitive and stereotypic movements such as twirling. Some also display rigidity and inflexibility to change, and prefer a consistent and structured environment.
Self-injurious behaviour is common, although this may reflect the severity of general developmental difficulties rather than being a specific feature of the syndrome. The self-injury takes various forms, such as eye-pressing and poking, head-slapping, scratching and hand-biting. The latter is particularly common in Cornelia de Lange syndrome; it tends to be stereotyped and repetitive for a given individual and may have a compulsive quality. Aggression towards others may be less common. There is some evidence that hyperactive and self-injurious behaviours are related to pain from gastrointestinal reflux which is common in people with the syndrome.
What are the symptoms?
| Inheritance patterns and prenatal diagnosis 
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