Professor Chris Oliver, studying autism links

The team received over 120 questionnaires that focused on repetitive behaviour, autistic like behaviours, hyperactivity and low mood. The same questionnaires was sent to five other syndrome groups to allow them to make comparisons. The other syndrome groups were Cri du Chat, Angelman, Prader-Willi, Fragile X and Lowe.

“We have a lot of information to analyse but there are two important findings that we now need to follow up very carefully,” said Professor Chris Oliver.

“The first concerns Autistic Spectrum Disorders. This term is often used instead of ‘autism’ as it recognises that the features of autism can vary a good deal between individuals. A valid questionnaire, like the one we used to look at this, has not been used previously with children and adults with Cornelia de Lange syndrome. The results show that the features of Autistic Spectrum Disorders are surprisingly common in people with Cornelia de Lange Syndrome. These features are repetitive behaviours (stereotyped, compulsive and ritualised behaviours that occur in the same way repeatedly), social impairments (for example, avoiding eye contact, not sharing attention with others) and communication (for example, late development, literal interpretations).

“There has been some debate in the past about whether people with CdLS can also fall within the autistic spectrum. Our research shows that this is certainly possible and that this may be more common than previously reported. However, we must be cautious about these results. The questionnaire cannot diagnose autism and we need to be sure that the features of autistic spectrum disorders that we see in people with CdLS are the same as those we see in children and adults diagnosed with autism.”

Jo Moss, PhD student at the University of Birmingham, is making very good progress on these questions and should complete her study of autistic spectrum disorders in CdLS in about a year.

Surprise result

Chris reported that the second finding was more surprising and concerns low mood. “We found that low mood was more commonly reported in CdLS than any of the other syndromes and that very low mood becomes increasingly more common in teenagers and then adults. Also, very low mood seems to be associated with self-injury. These patterns were not seen in the other syndromes we studied. At present it is difficult to be certain about why this might be the case. It could be that pain and discomfort are causing low mood.”

Lelsey Wilkie, Research Associate, is starting to study this possibility this year. The change with age is more difficult to understand and Birmingham did not see this in any other syndrome.

“This area needs more work as it is does seem to us that parents report some important changes in early adulthood. However, whether this is due to life events, such as leaving school and home and change of routine, or something else is unclear. This is our next challenge and with your help (filling in our very interesting questionnaires!) we hope to come up with some answers.