Who this information is for

This has been written for parents and carers to help towards an understanding of self-injurious behaviour when it is shown by a child or adult with Cornelia de Lange Syndrome. This not meant to be a comprehensive manual for assessments and interventions but is a guide to causes of self-injury and the strategies and resources that are needed in order to reduce this distressing behaviour. By writing this we hope that parents and carers will become informed about the causes of self-injurious behaviour and active contributors to the assessment and treatment process and so be in a position to help professionals who may have limited experience of Cornelia de Lange Syndrome.

Why we have written this book?

There are a number of reasons why we felt it was necessary to write this book. The main one is that although there has been an increase in the amount of information about behaviour disorders and syndromes, it is not easy to obtain. Most of the information about both self-injurious behaviour and Cornelia de Lange Syndrome is generally inaccessible to carers and parents as well as many professionals. Research articles are scattered throughout academic journals published over decades and periodically they need to be brought together, reviewed and interpreted. Many of the books that have been written on self-injurious behaviour are expensive to purchase and are often found only in the libraries of universities. On the few occasions that the information on Cornelia de Lange Syndrome and selfinjurious behaviour has been a collated there is a lack of integration. Texts on self-injurious behaviour rarely refer to Cornelia de Lange Syndrome, except in passing, and vice versa. Separation of the two topics does not make the task of understanding and treating self-injurious behaviour in Cornelia de Lange Syndrome any easier. 

It is estimated that there is a ten year delay between research being conducted and the findings being put into practice. That is too long. Additionally, the amount of research funding that is available to study self-injurious behaviour in Cornelia de Lange Syndrome is extremely limited in the UK and this situation appears unlikely to change. In combination, these factors mean that research will not have an immediate and significant impact on the lives of children and adults with Cornelia de Lange Syndrome unless a short cut can be found. Whilst it might be preferable to wait for research to uncover all of the reasons for self-injurious behaviour in Cornelia de Lange Syndrome this will take a long time. Many children and adults with Cornelia de Lange Syndrome cannot wait for this research to be conducted so we have to use what we have and try to fill the gaps in knowledge with what we know from related research. The second reason for writing this book is that many parents and carers want to act now.

Self-injury in children and adults who do not have Cornelia de Lange Syndrome and other behaviour problems

In addition to parents and carers of children and adults with Cornelia de Lange Syndrome we hope that some parts of the book will be useful to any parent or carer of a child or adult who has a intellectual disability. In particular the information in chapters 3, 5, 6 and 7 is not specific to Cornelia de Lange Syndrome. Also, we hope the idea of trying to understand how syndrome specific physical and psychological features and theories of the causes of self-injurious behaviour might be integrated, might be of interest to parents and carers of other individuals who show self-injurious behaviour and have a genetically determined syndrome, such as Cri du Chat or Smith-Magenis syndromes in which self-injury is common. Finally, most aspects of the psychological theories of why self-injury occurs are not necessarily specific to self-injurious behaviour and can be generalized to other types of challenging behaviour such as aggression, shouting and screaming and destroying the environment. This information is presented in Chapter 5.

The sources of information for this book

The information and perspectives that are presented in this book come from a number of different sources. Over the last 20 years we have conducted a number of research projects into the prevalence, causes and treatment of self-injurious behaviour in children and adults who have an intellectual disability. Whilst much of this research has not been specific to Cornelia de Lange Syndrome many of the general principles are clearly applicable to all individuals who have an intellectual disability including those with Cornelia de Lange Syndrome. Some of the findings come from research conducted by Phillipa Hyman, a clinical psychology postgraduate at the University of Birmingham between 1996 and 1999. Much of the information in chapters 2 and 4 comes from two postgraduate theses that were written by Kate Arron and Jenny Sloneem whilst studying at the University of Birmingham in the UK between 1999 and 2002 and working on a project that was funded by the Community Fund via the Cornelia de Lange Syndrome Foundation (UK and Ireland) and the Medical Research Council. The projects conducted during this time, and subsequently the work of Joanna Moss and Jane Petty, were supervised by Scott Hall and Chris Oliver.

These projects have supplied us with research evidence for the perspective that we propose throughout the text. However, this is not always the richest source of information. In addition to reviewing literature and conducting research, an extremely important source of information has been our clinical work and attendance at Cornelia de Lange Syndrome conferences in the UK, Ireland, Italy and the USA. At these conferences we were very fortunate to be able to speak to a number of parents and carers who described self-injurious behaviour of children and adults with Cornelia de Lange Syndrome in some detail and allowed us to gain insight into some of the reasons that the self-injury might occur. We hope that this combination of sources of information has allowed us to cover most of the areas that parents and carers want to know more about.

Parents and professionals

We noted at the outset that this book is primarily aimed at parents and carers. The purpose of the book is to guide parents and carers through the process of understanding self-injurious behaviour and being actively involved in conducting assessments and interventions. It can be difficult to find the right kind of professional help and many parents may want to try to things for themselves. Some tasks are easier than others and the severity of the self-injury and the personal resources of time, energy and support will often be the determining factors in deciding how much and what to take on. At any of the stages when parents and carers are tackling self-injurious behaviour it is important to at least seek advice if not help. We have tried to indicate those professionals who might be able to offer the most appropriate advice at each stage. Finally, throughout the book we have provided references to scientific journal articles, books and book chapters so that parents and carers might look at the evidence and professionals might seek more detailed and technical information. At the end of the book we have also provided a bibliography for further reading on some topics.

How to use this book?

The book has been structured to guide parents and carers through the process of understanding, assessing and intervening. There are four main sections to the book:

  • Background information about relevant features of Cornelia de Lange Syndrome.
  • Information about self-injurious behaviour in people with intellectual disability and what is known about various aspects self-injurious behaviour in children and adults with Cornelia de Lange Syndrome, including potential causes.
  • Descriptions of assessment strategies that will help parents and carers to relate the general information presented in the causes section to the person they know and to build a model of the possible causes of self-injurious behaviour so that an intervention strategy can be developed.
  • Information on the different types of intervention strategy that can be used given the model of possible causes that has been developed for the individual. In this section the emphasis is on both developing rational interventions and systematic evaluation of how effective they are.

We strongly recommend that those using this book do not skip the early sections on background and assessment as we believe these are critical to increasing the chances that an intervention will be successful.

What can be achieved?

It must be stated at the outset that there are no quick, easy or ‘one size fits all’ solutions to the problem of self-injurious behaviour in children and adults with Cornelia de Lange Syndrome. Self-injury is not like a disease with a single cause and clear pathway to treatment. In the majority of people with intellectual disabilities who show self-injurious behaviour it has become clear that the causes vary considerably between individuals and that for any individual there may be a number of factors that contribute to selfinjurious behaviour and these may well change over time. We believe the strategy to adopt is one of trying to understand as much of the self-injurious behaviour as possible so that a rational intervention can be implemented for that part which we understand. When we cannot identify a particular cause then we may need to rely on using a systematic approach to implement interventions that have been shown to work for others. Whilst this situation is less than desirable it is certainly better than doing nothing.
Some interventions are, without doubt, demanding of resources. This is particularly true of those interventions that involve changes to the way self-injurious behaviour is managed and increasing peoples’ adaptive behaviours. It is quite likely that access to these resources will be difficult as they are not necessarily well supported within the National Health Service. However, our experience is that parents who lobby their local services and are persistent in seeking services are generally more successful than those who take ‘no’ for an answer. Additionally, even if the ideal intervention cannot be put into place because there is a lack of resources then some compromise may be necessary. Once again we believe that doing something is better than doing nothing.
It is also important to note that although there is very little research on the persistence of selfinjurious behaviour in children and adults with Cornelia de Lange Syndrome over time we have collected some evidence that shows that the behaviour does appear to be very persistent. It is likely therefore that a long-term approach to self injurious behaviour is the most appropriate. This should not be cause for pessimism as for many people self-injurious behaviour may persist at a very low and unproblematic level. However, for some people the behaviour may come and go and it is important to come back to this book on a number of occasions rather than a using it as a one-off. Even though we know there is evidence that self-injurious behaviour may persist over time our experience is that it is possible to reduce the behaviour. Our advice therefore is do not give up, keep trying different strategies and through a process of trial and error you will arrive at an approach that will be the most beneficial for the person who shows self-injurious behaviour.

A comment on Behavioural Phenotypes

Before going any further we want to introduce the idea of a ‘Behavioural Phenotype’ and give our perspectives on the relevance of this idea to people with Cornelia de Lange Syndrome. ‘Behavioural Phenotype’ is the term used to describe a strong association between specific behaviours and a particular genetic syndrome. It is often assumed that because of this association, the behaviours arise from the genetic make-up of individuals with the syndrome. Much research has been conducted in this area and published reports have described associations that are believed to exist. Commonly accepted examples include self-injurious behaviour in Lesch-Nyhan Syndrome, hyperphagia (over-eating) in Prader- Willi Syndrome and stereotyped, repetitive hand movements in Rett Syndrome1.

Box 1.1: Genetic syndromes and their reported Behavioural Phenotype.

It has been suggested in the research literature that a behavioural phenotype exists for Cornelia de Lange Syndrome and that one of the behaviours that exists as part of the phenotype, is self-injurious behaviour. This assumption can be traced to William Nyhan and his presidential address to the Society for Pediatric Research in 1972.
At this time Dr. Nyhan was studying what became known as Lesch-Nyhan Syndrome in which self-injurious behaviour is almost always seen and is frequently very severe. This led Nyhan to suggest that the behaviour was due to a biological disorder in Lesch-Nyhan Syndrome. It would seem that Nyhan then made the observation that severe self-injurious behaviour was seen in Cornelia de Lange Syndrome and consequently suggested that there might also be a single biological cause. Since this time an assumption has developed that self-injurious behaviour might be an unchangeable feature of Cornelia de Lange Syndrome.

Since the early observations of Nyhan it has become possible to see why this idea might have been put forward. Firstly, as Nyhan pointed out, because he had an interest in self-injurious behaviour it is likely that he was referred mainly children and adults with Cornelia de Lange Syndrome who showed self-injurious behaviour.

Consequently, he did not see all children and adults with Cornelia de Lange Syndrome and so did not see those who did not engage in the behaviour. Additionally, self-injurious behaviour is seen in some children and adults who have an intellectual disability, but who are not diagnosed with any specific syndrome, thus self-injury is not necessarily associated with any particular genetic syndrome. As research has progressed in this area, it has become clear that whilst self-injurious behaviour is common in Cornelia de Lange Syndrome, it certainly is not an inevitable feature of the syndrome. This is important as it suggests that as there is no one-to-one relationship between self-injurious behaviour and Cornelia de Lange Syndrome, then the situation is very different to that for Lesch-Nyhan Syndrome, where self-injury is believed to be genetically determined and consequently inevitable.

More recent views have taken a slightly different perspective to behavioural phenotypes than that discussed by Dr. Nyhan, reflecting the many possible mechanisms within biology and the environment that may shape and effect how we behave. As mentioned above, we believe that a behavioural phenotype is a characteristic pattern of behaviours that are strongly associated with a specific syndrome. However, whereas some people suggest that a biological mechanism underpins the behaviour, we make no assumptions as to the mechanism causing the association. Instead, it is sometimes useful simply to think of a behavioural phenotype as the increased likelihood that a person with a genetic syndrome will exhibit certain behavioural or developmental features when compared to a person without the syndrome5. Thus, behaviours seen commonly in syndrome groups may not necessarily be determined by the genetic makeup of the syndrome, but may be influenced by other factors. Box 1.1 shows how, using this perspective, a number of behavioural phenotypes have been described in relation to specific genetic syndromes.

A greater insight into the associations between genetic syndromes and behaviour would help toward an understanding of syndrome- behaviour relationships and the reasons why the associations exist. Understanding in this area would also help to guide treatment and education. By these means, standard tasks and lessons may be tailored to meet the needs of individuals with greater understanding of their intellectual and behavioural strengths and needs. The improvement in education and development, together with the possible reduction in problem behaviours, which are often the reason for failed care and social exclusion, has the potential to increase the quality of life in many individuals.

Although self-injurious behaviour is common in children and adults with Cornelia de Lange Syndrome, there is certainly no need to think that the behaviour cannot be reduced. It can. 

Additionally, some of the causes of self-injurious behaviour in Cornelia de Lange Syndrome are likely to be similar to those seen in all children and adults who have intellectual disability. If we only think about self-injurious behaviour in Cornelia de Lange Syndrome we run the risk of dismissing useful ideas and information that come from a much broader approach. It may well prove to be the case that there is a Behavioural Phenotype for Cornelia de Lange Syndrome i.e. that some cognitive and behavioural features do associate to the syndrome.

However, these cognitive and behavioural features do not define children and adults with Cornelia de Lange Syndrome. Children and adults who have Cornelia de Lange Syndrome are people first and have more in common with other children and adults than they have differences. The main task for us is to try and understand why particular features of Cornelia de Lange Syndrome might be associated with selfinjurious behaviour and also to take information from the broader literature on all people with intellectual disabilities and work out the extent to which this is applicable to people with Cornelia de Lange Syndrome.

Chris Oliver

by Chris Oliver Jo Moss Jane Petty Kate Arron Jenny Sloneem Scott Hall

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