Cornelia De Lange

New findings replicate association between repetitive behaviour and executive function in fragile X and Cornelia de Lange syndromes

Executive function is a term you may be familiar with, but most people have not come across it before. It’s a term often used by psychologists to describe complex cognitive functions (brain processes) that helps a person control and regulate their behaviour.  A number of cognitive functions fall under the executive function umbrella including inhibition (the ability to stop and start behaviour appropriately), working memory (the ability to hold information in mind for a task at hand) and switching (the ability to change from one task to another easily, or one way of thinking or acting to a different way of thinking and acting).


A number of years ago it was suggested that repetitive behaviours that are observed in a number of syndrome groups might arise when there is a difficulty with any one of these processes. So, for example, if a person cannot stop a behaviour once it has started they may repeat it over and over, or if a person cannot switch to a new way of responding they might become ‘stuck’ on a previous way of behaving for a long time. If a person cannot hold information in mind it could give rise to repetitive questions as the person seeks to gather information they need, again and again.


Research in this area is in its infancy, and difficulties with executive functions are not the only theory for why repetitive behaviours might occur.  Despite this, research published by Kate Woodcock in 2009 found that high levels of adherence to routine (a complex repetitive behaviour) in Prader-Wilii syndrome may be linked to difficulties with switching attention. It has been suggested that this difficulty makes changes particularly difficult for people with Prader-Willi syndrome and that this might explain temper outbursts that are often observed in this syndrome. In the last three years, research carried out by Jane Waite, Vicky Johnson and colleagues at the University of Birmingham has found associations between repetitive behaviours and tests of executive function in Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes. It should be noted that these most recent findings are just associations, which means that as repetitive behaviours increase so do difficulties with executive functions; however, it does not mean that one causes the other, although one may do.  Further research is required to understand the association between executive function and repetitive behaviour in genetic syndromes. 


This research is currently being written up for publication and until this time the findings should be reviewed as preliminary.  This research is exciting because it leads us one step further towards understanding the nature of repetitive behaviour in genetic syndromes.


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