The health and well-being of people with a neurodevelopmental disorder

Recent UK research - The lifelong health and well-being of people with a neurodevelopmental disorder

From the Cambridge Intellectual and Developmental Disabilities Research Group (CIDDRG)
In 2009, we started a brief research project funded by the UK Lifelong Health and Wellbeing Cross-Research Council Programme. In this study, we wanted to learn more about how genetic knowledge might be used to improve the health and social care of adults with a neurodevelopmental syndrome associated with an intellectual disability. The initial hope was that this pilot work might lead to a more extensive funded study but this was not the case.

However, important lessons were learnt which are summarised in this article. A paper is also being prepared for submission to the Journal of Intellectual Disability Research. In this study we selected eleven different syndromes, including PWS. We set out to interview three different stakeholders: (1) parents of children with one or other of the 11 included neurodevelopmental syndromes; (2) representatives of the syndrome organisations; and (3) opinion formers in health and social care. Some of you will have participated in this study and we would like to thank you very much for your contribution.

The reason for starting the study was the fact that advances in genetic testing and genetic science over the past twenty years have led to a more accurate diagnosis of neurodevelopmental syndromes, along with the identification of possible syndrome-specific physical and behavioural characteristics (referred to as phenotypes). This understanding has made it possible for health and social care services to use this information for the benefit of the people with the syndrome in question. For this to happen staff in health and social care services would need to be sensitive to, and possibly organised around individuals neurodevelopmental syndromes and the features specific to them.

To date services have largely addressed the needs of men and women with intellectual disabilities as if they were a homogenous group by focusing on important social issues including: equality of rights and citizenship, equal access to services, and the promotion of choice through person-centred planning and individual budgets. These general initiatives, although very important, have made little use of advances in genetic knowledge. Such knowledge may bring additional benefit in the support and treatment of people with a neurodevelopmental syndrome and may guide to the potential risks for ill-health and be an aid to the early diagnosis of syndrome-specific health problems. This is especially the case where a person is profoundly disabled and may not be able to speak for themselves. In social care, this knowledge could be used to inform health monitoring, guide in the understanding of behavioural problems, and ensure placements and residential accommodation are sensitive to syndrome-specific needs.

There are, of course, problems with the idea of ‘genomically orientated’ health and social care. First, there is considerable diversity within any particular syndrome, and, although as a group there are many people born with a neurodevelopmental syndrome, the prevalence of individual syndromes is often very low and, for this reason, not every professional will be familiar with every syndrome and its associated risk factors. Secondly, some professionals do not like putting a person’s neurodevelopmental syndrome or medical condition first, as they believe this is not respectful of the person and may in fact lead to unequal treatment. Finally, in the troubling history of eugenics, people with inherited disabilities have been singled out. Whilst pre-conception and prenatal counselling is often an option, historically there have also been completely unacceptable policies that have followed this over emphasis on genetics. Health and social care with an emphasis on genetics presents, therefore, both promise and problems. 

What we learnt from our interviews is summarised below.

Parents 

We interviewed 55 parents, recruited from eleven different syndrome organisations, mostly with adult children. The interviews addressed how these parents understood their son or daughter’s wellbeing and their perception of the value of genetic knowledge in securing and enhancing that wellbeing.  What we learnt was that parents seemed to be well informed about the typical features of their son or daughter’s syndrome and had observed many of the expected illnesses and behavioural problems known to be associated with that syndrome. Where a son or daughter did not conform precisely to their parent’s understanding of a syndrome, this was seen quite simply as a consequence of individual variation. When asked whether knowledge of their child’s neurodevelopmental syndrome had enabled them to better prepare for particular health or social problems, parents in fact tended to see a diagnosis as a way to help them mentally cope with a sick child rather than the practicalities of dealing with the presence of a particular illnesses or disabilities.

With respect to GPs, parents actively sought out a ‘sympathetic GP’ who would listen to their concerns and would be willing to learn about their child’s condition. They did not expect their GPs to be experts but they did expect them to read up on a syndrome once they had a patient with that syndrome. Parents were generally negative about hospital staff saying that, in their experience, they did not meet the standards necessary to attend to their child’s needs. Social services were not felt to have much relevance in respect of a genetic diagnosis other than that a genetic diagnosis sometimes speeded up the bureaucratic processes necessary to obtain support.

Genetic diagnoses were very important to parents when their children were young and they wished to make sense of their child’s illness and disabilities. As their children aged and moved into adult services parents’ concerns focused on opportunities for social inclusion and the detrimental effects of mental health problems on inclusion and participation, rather than the genetics.
 

Representatives from syndrome organisations

We interviewed representatives from eleven syndrome organisations with questions addressing the size and history of their respective organisations, and their perceptions of the usefulness of genetic knowledge in both promoting the wellbeing of members and campaigning on their behalf.  These interviews showed that these organisations presented a public face representing a specific syndrome, on the one hand, while, on the other, they were aware that the membership they represented was highly diverse with respect to levels of intellectual disability, and their physical and mental health and additional disabilities.
Many of the representatives were also parents of a disabled child, and their views on GPs, hospital staff and social care were similar to those of the parents we interviewed. Similarly, they sought to promote social inclusion and participation but saw mental health problems as a significant barrier. Representatives were knowledgeable about genetics and endeavoured to make this knowledge useful.
 

Small sample of opinion informers

Our small sample of ten opinion informers included; (1) those with a specialist interest in particular neurodevelopmental syndromes; and (2) those whose interests in the needs of people with an intellectual disability was not confined to specific syndromes. What we learnt from these professionals was as one might expect. Those, whose interests were wider than specific syndromes, argued that, in theory, health and social care providers could benefit from a greater understanding of genetic issues. However, in practice, this was thought difficult to deliver and that a person-centred approach was better able to meet people’s needs. In contrast, those professionals with a specialist interest in genetics, and consequently a stronger medical focus, thought that health services were not making best use of genetic knowledge. They also thought that person-centred approaches to service delivery, while appropriate for social needs, were not appropriate for medical care. It was apparent that specialists interested in particular neurodevelopmental syndromes saw significant scope for further research into and use of the concept of syndrome-specific genetic phenotypes.
 

All the different stakeholders

The results from the interviews with all the different stakeholders gave some important insights into the possibilities for genomically-orientated health and social care, and whether it could enhance the wellbeing of people whose intellectual disability is due to a neurodevelopmental syndrome.  From the perspective of our respondents, not unsurprisingly given the people we interviewed, there was considerable interest in neurodevelopmental syndromes. However, the practical application of that knowledge was problematic for all respondents and the idea of genomic ally–orientated health and social care services remains an aspiration. Nonetheless, a genetic diagnosis appears to give both parents and service providers a sense of coherence. Broadly they know they are dealing with a person who has special and, in some cases, demanding needs. The practical application of syndrome-specific knowledge is mainly confined to the early years of a person’s life and to their medical needs at that time. This knowledge is of far more limited use when they become adults, and then the parents’ concerns are more about how mental health problems limit social integration.
 

Conclusion: What can we make of this? 

Genomically-orientated health and social care services are some way off and will depend upon on specialists with an interest in particular neurodevelopmental syndromes proving that interventions informed by genetics in health and social care can improve the wellbeing of a particular population.  The interest in genetic science of non-specialists is strong and positive but, as yet, they have little sense of its practical application in service design and delivery. If we want to improve the contribution of genomics to health and social care we will have to convince the non-specialists of its direct practical use. This will be the challenge in the years to come.

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