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BEHAVIOUR SPECIAL REPORT; GROWING UP WITH CdLS

What does the future hold for my child? What changes can I expect as my child grows up? These are questions which many parents often ask and, of course, there’s never a definite answer.
When a child has a diagnosis of Cornelia de Lange Syndrome (CdLS), the uncertainty is likely to feel even greater. Many parents of people with CdLS have even had the horrendous experience of being told that their child may not live to adulthood.
While it is now known that people with CdLS can live well into their adult years, there has been relatively little information available on how the syndrome affects people as they approach and reach adulthood.

CHANGES IN ADOLESCENCE AND YOUNG ADULTHOOD

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Introduction

FINDING ANSWERS TO GROWING QUESTIONS

Research is now beginning to suggest that certain changes in behaviour and mood (and possibly other areas too) can occur as people with CdLS grow up.
Here at the University of Birmingham, Professor Chris Oliver, Dr Jo Moss and their team have also begun to see some themes emerging in personal accounts of late adolescence and early adulthood, particularly in people who are more mildly affected by CdLS.
We wanted to share with you some of the stories we’ve heard from families, to illustrate the different experiences of people with CdLS as they grow up.

In this article, we asked six young adults with CdLS and/or their families to tell us about their experiences of growing up with the syndrome.

We try to show how parts of their stories might relate to the findings from research into CdLS.

Along the way, not only did we find out about some of the changes that these young adults and their families have
noticed, but also about the inspirational ways in which they have coped with the challenges of adolescence and early adulthood. In the words of one parent, through all the difficulties, it is a “dignified, valid and beautiful journey”.
When reading about the experiences of these young adults and their families, it is important to keep in mind that CdLS is extremely variable in its effects, both physically and psychologically. This is likely to be just as true of the changes people experience over time. Furthermore, disentangling “the CdLS” from all the other aspects of an individual is incredibly complex, and it is always difficult to say how much the findings from research on groups of people with CdLS relate to any one person. We can only describe the broad picture whilst knowing that everyone is different.
In the article, we’ve included some ideas from families for how to deal with certain difficulties. We also mention suggestions based on work conducted with other groups of people who experience similar problems (e.g., people with Autism Spectrum Disorders, as well as the typically developing population). More research is needed to find out how effective different strategies are for people with CdLS. The advice here is not intended to be anything like a complete review of possible ways to deal with the problems, but might provide a few pointers.
We’ve also put in some references to some of the papers whose research we mention. If you want to access these papers, or to get a summary of them, just send us an e-mail (our e-mail address is at the end of the article). 

Research is now beginning to suggest that certain changes in behaviour and mood (and possibly other areas too) can occur as people with CdLS grow up.

What changes?

Difficulty with Change and Unpredictability

Individuals with CdLS have a lot in common with those with Autism Spectrum Disorders (ASD) and, indeed, many people with CdLS also have diagnoses of ASD.
People withASD often strongly prefer routine and predictability, and it seems that this is also true of many people with CdLS. In the individual stories, the families of Estey, Jake, Victoria, Keith and Eleanor all report change and unpredictability to be a major source of distress.

Families of people with CdLS sometimes report that problems with change and unpredictability increase over the course of adolescence. Some research also suggests that ASD-type characteristics might become more prominent over time, which could explain these increasing prob- lems with change.
Data collected at the Cerebra Centre indicated that people with CdLS over 16 years of age showed more repetitive behaviour and other ASD-like characteristics than did younger people with CdLS. Researchers in Italy (Basile et al, 2007) also found that repetitive behaveiour was more common in older people with CdLS. Other research (e.g., Sarimski, 1997) suggests that older children (6 years and above) struggle more with changes to their routine than younger children.

One theory which is sometimes used to explain aspects ofASD is the “Executive Dysfunction” theory. This theory may also be useful to explain certain characteristics of people with CdLS.
The amount of change and unpredictability in life naturally increases around adolescence, and this could be one reason that people with CdLS have particular problems as they enter this phase of development.The transition from child to adult services very frequently poses difficulties (see especially Keith and Jake’s stories)

Increased challenges in everyday living also accompany enhanced independence (see especially Estey). 

A good example of this is the use of public transport, whose intrinsic variability and unreliability has caused problems for many of the families we speak to. In Estey’s case, an unexpected occasion when she was not allowed to stay on the bus in her usual routine led to severe anxiety and an aggressive outburst. 

The degree to which increases in ASD-like tendencies might also be associated with neurological change over time is presently unclear, and more research is needed.

What can we do?

Parents and carers deal with difficulties with change and the need for routine in different ways. Keeping life as predictable and regular as possible can be very effective (e.g., life at Jake’s house). This might mean talking to schools, colleges and care staff to help them understand the need for routine. Preparation can also make a huge differ- ence when something unusual is likely to happen. For instance, Keith’s family finds that talking through the details of an unusual event with Keith before it happens can take the edge off the stress it causes. Transitions can be eased by allowing plenty of visits to a new place before a move occurs (like Jake’s move from school to college, and Eleanor’s move to her flat), allowing the process to occur gradually. Sometimes using Social Stories about moves and changes can help.
Estey and her family have found that use of her mobile phone (usually to call her parents) when unexpected events occur has been invaluable, as well as the Cognitive Behaviour Therapy (CBT) strategies she has learnt to use to cope with anxiety when changes happen.Allowing people with CdLS to organise certain events for themselves can be really helpful, as allowing the person some control might help to reduce any fear of unpredictability (e.g.,Victoria’s barbecue and, hopefully, her 30th birthday ball).
In some instances, not allowing a routine to develop in the first place can avoid some of the dependence on schedules which are often difficult to maintain. Jake’s parents deliberately arrange their visits for different times from week-to-week so that there won’t be a problem if they are ever unable make a specific day.

Mood, interest and PLEASURE

Research shows that age may play a part in emotions

Dr Alice Welham, Dr Jo Moss and Professor Chris Oliver
Lisa Nelson, who was funded by the Foundation, recently completed her PhD at the Cerebra Centre with Chris Oliver and Jo Moss. She used a specific questionnaire (the “Mood, Interest and Pleasure Questionnaire” or MIPQ) to assess the mood of people with CdLS, as well as the interest and pleasure they show in activities.

Lisa found that there were some differences between the age groups. In particular, older people with CdLS displayed lower interest and pleasure than younger people. Other researchers, at The Cerebra Centre for Neurodevelopmental Disorders and elsewhere, have similarly reported that mood, interest and pleasure are lower in older children and adults with CdLS than in younger children (e.g., Berney, Ireland & Burn, 1999) and also suggest that adults with CdLS show higher levels of negative emotions than children (Oliver, Berg, Moss, Arron & Burbidge, 2011). Taken together, these studies might suggest that mood, interest and pleasure decrease as people get older.

The possible changes over time appeared to occur through adolescence into early adulthood.There was some indication in Lisa Nelson’s study that approximately 19 to 22 years of age may be a particu- larly low point for interest and pleasure. It is interesting that this is often the time people’s living arrangements and day care change and there is evidence that disruptions to routine and an increase in predictability might be significantly related to low mood.
Several of the individual stories featured here are consistent with this lowering in mood, and decreased interest and pleasure in activities, in adolescence and early adulthood (e.g., see especially Estey, Andrew and Victoria). Some of the people we talked to also described how mood seemed to improve again after a period of difficulty, particularly when life became more predictable.

What can we do?

  1. The first thing is to be aware of possible signs that someone’s mood may be deteriorating, as it might not always be obvious. Possible signs include changes in appetite, reduced motivation, loss of self help skills (e.g., washing, dressing), picking or scratching arms and legs and seeming tearful, tired or even physically unwell.
  2. Second, if mood seems to deteriorate, it is important to consider whether this might be caused by pain or discomfort. Reflux, middle ear infections and tooth or sinus problems are all common causes of pain in CdLS.You and your doctor might also want to consider whether there is any evidence of kidney or bowel problems, which can be experienced by people with CdLS, and can affect people’s mood.Your doctor should be able to help you to consider all these issues. Be persistent if necessary!

If you think there are ongoing problems with mood once any possible pain has been assessed and dealt with, then there are other things that can be tried to tackle the low mood directly. Ask your GP (or other health- care worker) for a referral to Psychiatry and/or Clinical Psychology for assessment and intervention.There are various medications which could be considered (your GP or a psychiatrist might prescribe one of these). There are also interventions which do not involve medication, which clinical psychologists, some psychiatrists, and various other healthcare professionals should be able to advise you on and deliver.These can include Cognitive Behaviour Therapy, which helps people to improve their mood by changing what they do and/or how or what they think. Whether Cognitive Behaviour Therapy can be used depends on level of ability.
Finally, as discussed above, changes in routine and loss of familiar surroundings (like school) can affect mood, particularly in CdLS. It could be that gradually re-establishing routines will naturally lead to an improvement in mood over time.

Be aware of possible signs that someone’s mood may be deteriorating, as it might not always be obvious. Possible signs include changes in appetite, reduced motivation, loss of self help skills (e.g., washing, dressing), picking or scratching arms and legs and seeming tearful, tired or even physically unwell.

Anxiety, including SOCIAL ANXIETY

Triggers that lead to behaviour problems

Anxiety is generally defined as an unpleasant emotional state with feelings of apprehension, dread and uneasiness. It has physical aspects (e.g., racing heart) and psychological aspects (e.g., “worrying”). Anxiety can be very useful in certain situations (e.g., helping you to run away from a poisonous snake), but when it occurs too much or in situations when it is unhelpful, it can become a big problem. Anxiety is often closely related to low mood (see above), in that people who experience periods of problematic anxiety are also more prone to feeling “low” (and vice versa).The triggers for a period of anxiety vary widely from person to person. In CdLS, common triggers include changes in routine (see above) and demanding social situations.

All of the individuals whose stories feature in this article have had difficulties with anxiety during adolescence and early adulthood.This does not, of course, mean that everyone with CdLS will have similar problems (it should be noted that researchers in Italy found evidence that people who are more mildly affected by CdLS, like those interviewed for this article, may show more signs of anxiety than those with lower levels of ability; Basille et al, 2007). However, it does appear that certain types of anxiety might characterise CdLS, particularly as people get older (e.g., Kline et al, 2007).

Social Anxiety
It has been known for some time that social difficulties are common in individuals with CdLS.This is another area in which people with CdLS share characteristics with those with ASD. People with CdLS often expe- rience anxiety related to social interaction (known as Social Anxiety). One extreme form of Social Anxiety, which is quite common in CdLS, is selective mutism.The term ‘selective mutism’ is used to describe the behaviour of people who will not speak at all in certain situations or to certain people, even though they are able to do so.

Research in our department indicates that social anxiety may increase as people with CdLS grow up (e.g., Collis et al, 2006). Social demands are likely to increase as people go through adolescence, and this might contribute to social anxiety problems (which are indeed common in adolescents generally). Further research might help us to under stand whether there are also specific brain changes associated with increasing social anxiety in CdLS.

All the people with CdLS we interviewed for this article have shown signs of social anxiety as they have grown up. Andrew, for instance, often feels nervous in social situations and finds it difficult to get involved in conversation. Jake, Eleanor and Keith can get anxious when interacting with people, and have all had periods when they have shown selective mutism. However, it is certainly not all doom and gloom – their families feel that their social abilities have increased in recent years.

What can we do?

Be aware of anxiety
The signs that someone is feeling anxious can vary, and may not be immediately obvious, especially in people who may not be able to easily tell you how they are feeling. However, they might include restlessness, pacing, forms of self-injury (mainly picking and scratching the arms and legs), irritability, loss of appetite or reporting feeling unwell.
Work on communication skills
Difficulty in making oneself understood is likely to worsen social anxiety. People with CdLS vary widely in their speech, and sometimes other communication aids might be useful.Visual aids can be a fantastic way to improve communication and the confidence to communicate. Keith’s digital camera and laptop have revolutionised his social interactions. The National Autistic Society is likely to have many tips for helping people deal with social difficulties, which may also be relevant in CdLS.

Improving communication can also help clarify the causes of anxiety. It can be very easy to assume it is about one thing, when in fact it is about another. Clearing up any misunderstandings (sometimes due to over-literal interpretation or other communication problems) can reduce or even take away the source of anxiety (we do realise that this is easier said than done!).

Be aware of avoidance
People (with and without intellectual disability) learn very quickly to avoid situations which make them feel anxious. It can be difficult for parents of people with CdLS to negotiate how much to go along with their children’s decisions to avoid anxiety-provoking situations, and how much to persuade them otherwise (for instance, see Victoria’s story, Box 6).We know that avoidance of a feared situation or object can make the anxiety much worse over time (because you never learn that you can cope with the anxiety, or that the situation/object is not really that fright- ening). On the other hand, increased control over what one does and does not do is a natural consequence of growing up, and it can clearly be important to respect people’s own decisions.

Often people with CdLS are very keen to socialise, but still avoid social situations (perhaps because the anxiety is so unpleasant). Sometimes it is possible to gently encourage a person to socialise more, starting in relatively easy situations and working up to situations which cause more anxiety. Periods of anxiety are generally self-limiting, and sometimes it is a question of helping a person to tolerate some anxiety at the begin- ning of a social situation in order to learn that the anxiety passes and the situation becomes enjoyable.
 
We need further research to establish the best ways to deal with social anxiety specifically in CdLS.

Getting Help

As with other mood problems, if the difficulties are severe your GP might suggest a referral to a psychiatrist or psychologist.

Challenging behaviours

Researchers in Italy (Basile et al, 2007) studied 56 people with CdLS, between the ages of 1 and 31. Challenging behaviour, self-injurious behaviour and repetitive behaviour were more common in older people. Researchers in the USA (Kline et al, 2007) also found that the onset and development of behaviour problems was frequently a main concern for parents and carers of adults with CdLS. Several families have told us of an increase in certain types of problem behaviour over adolescence and early adulthood. In particular, angry and aggressive outbursts and self injury can increase, or even appear for the first time.
Estey’s, Jake’s and Eleanor’s stories all contain examples of this increase in certain challenging behaviours.

We can’t be sure what underlies this. However, there are some possibili- ties. First, anxiety frequently precedes angry and aggressive outbursts.We have seen above that there may be increased anxiety with age, perhaps partly related to increased difficulty in coping with unpredictability and changes in routine.
Certain other changes in the ways people think and act may also relate to these problems. For instance, research in our team (Oliver, Berg, Moss, Arron & Burbidge, 2011) suggests that adults with CdLS may experience more “impulsivity” than children (under 18). “Impulsivity” is the tendency to initiate action without forethought, which could contribute to some of the problem behaviours people describe (see, e.g.,Victoria and Estey’s stories).

WHAT CAN WE DO?

It doesn’t need stating that self injury and aggressive behaviour can be extremely distressing and difficult for parents and carers to deal with.
As before, the first thing to check is whether pain or discomfort could be contributing to any change in behaviour.Then, it may help to address any problems with low mood and anxiety, try to keep routines predictable, and keep communication as effective as possible.Try to work out the situations which trigger the behaviour, and whether they occur only in specific places or with specific people. Keeping a diary of these outbursts and the events which preceded and followed the behaviour may be helpful.
Finally, bear in mind that a challenging behaviour may become “functional” socially, even if it does not start out that way.

Other possible CHANGES

Movement, sleep, speech and causes

Movement
We have had some reports, and there are some reports in the research literature, of young adults with CdLS experiencing changes in their movements over time. Movements may become slower and more difficult to initiate. However, there has been very little research on this, and what we know is mostly limited to individual reports.We know many more young people with CdLS who have not reported these changes.We have also spoken to a number of parents who say their son or daughter’s phys- ical abilities have generally improved over time (including Jake and Eleanor).
Sleep
Some studies have found that over 50% of people with CdLS have some sort of difficulty with sleep (such as trouble going to sleep or staying asleep, or daytime sleepiness), although others estimate figures as low as 12%.

There has been some indication (Kline et al, 2007) that, in some people, sleep problems may get more severe with age.
One of the people we spoke to for this article (Andrew), cites sleep as his biggest difficulty. Andrew remembers having sleep problems even as a child, but they may have got worse since adolescence. Also, they can be more problematic now that he is holding down a job.

Sleep problems can be associated with reflux, so it is important to get this checked. Also, you might ask your doctor about checking for other physical conditions which can affect sleep, such as obstructive sleep apnoea.There is some evidence that people with CdLS have a higher than average rate of sleep apnoea.This is characterised by snoring, pauses in breathing, and night-time gasping and choking. Measures to deal with anxiety and/or low mood could also be important.

There are also plenty of books and websites for setting up routines for a good night’s sleep. However, if these things don’t work, your child’s GP (or other doctor) might suggest referral to a sleep expert, or trying a prescribed sleep medication.

Speech
Some preliminary research within our team suggests that certain speech problems are more common in older people with CdLS, particularly the ability to “get words out”.This work is at an early stage.We have also heard several stories of speech and communication getting much better as people get older.

Relationship between the changes

In this article, we’ve discussed several possible types of change which might occur as people with CdLS grow up. It may be that some of these changes are highly related to one another. For instance, an increase in ASD-like tendencies (e.g. problems with changes to routine) might contribute significantly to increased problems with anxiety or low mood. Further research might help us to be more clear about whether some changes “cause” other changes.

CONCLUSIONS

Research into the long-term development of people with CdLS is still at a relatively early stage, and many questions remain.
What is the exact nature of any changes with age, and how specific are they to CdLS? How many people experience these changes, and in what ways? What is the cause of the changes? How are they related to each other? What are the different contributions of changes in the environment and changes in the way the brain (or other body part) functions?

We are pleased to say that the CdLS Foundation has continued to support this research by funding Lisa Cochran’s PhD and she is currently following up people with CdLS, to describe any changes that have taken place.The Foundation has also agreed to fund a new PhD student,Victoria Johnson, who has just started working on how we assess change and what might be helpful for people who are experiencing change.

Adolescence and early adulthood are turbulent times for everyone. It may feel daunting (or even frightening) to read about some of the particular problems which can occur in CdLS, especially if you have a young child who has the syndrome. It is very unlikely, however, that any one person will experience all of the difficulties discussed in this article. Human develop- ment is such a complicated process, and much of the research is at an early stage. And, whatever changes do occur, and however they might manifest for an individual person, there are plenty of things which you and other people can do to help your child. After particularly difficult phases, families often readjust and find arrangements which allow things to get easier again.

It’s been fantastic to meet young people with CdLS in researching this article, and to speak with their families.Very many thanks to everyone for taking the time to speak to us.Thank you also to all the other families who take part in our research at the University of Birmingham.We look forward to seeing you all again.

REFERENCES

 Basile, E.,Villa, L., Selicorni, A and Molteni, M (2007).The behavioural phenotype of Cornelia de Lange Syndrome: A study of 56 individuals. Journal of Intellectual Disability Research, 51, 671-681. 

 Berney, T., Ireland, M., Burn, J. (1999). Behavioral phenotype of Cornelia de Lange sundrome. Arch Dis Child, 81(4), 333 336.

 Collis, L., Oliver, C., & Moss, J. (2006). Low mood and social anxiety in Cornelia de Lange syndrome. Journal of Intellectual Disability Research, 55, 792.

 Kline, A. D., Grados, M., Sponseller, P., Levy, H. P., Blagowidow, N., Schoedel, C., Rampolla, J., Clemens, D. K., Krantz, I., Kimball, A., Pichard, C., & Tuchman, D. (2007). Natural History of Aging in Cornelia de Lange Syndrome. American Journal of Medical Genetics Part C, 145C, 248-260.

 Nelson, L.K. (2010). Mood and sociability in Cornelia de Lange Syndrome. Unpublished Doctoral Thesis

 Oliver, C., Berg, K., Moss, J., Arron, K., & Burbidge, C. (2011). Delineation of behavioural phenotypes in genetic syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity. Journal of Autism and Developmental Disorders, 41(8), 1019- 1032.

 Sarimski, K. (1997). Communication, social- emotional development and parenting stress in Cornelia-de-Lange syndrome. Journal of Intellectual Disability Research, 41, 70-75.

Chris Oliver
Chris Oliver

By Dr Alice Welham, Dr Jo Moss and Professor Chris Oliver
Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham

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