A greater proportion of individuals with intellectual disability experience health problems compared to the general population. Yet individuals with intellectual disability receive comparatively lower levels of preventative healthcare, have reduced frequency of contact with general practitioners and are less likely to have health issues identified and diagnosed.

In a healthcare system where care has to be actively requested, people with intellectual disability may not receive necessary services. Pain and discomfort is a subjective experience and assessment of pain typically depends on self-report which is often impossible in individuals with severe or profound intellectual disability or communication difficulties which are common in genetic syndromes.

This demonstrates the necessity for routine health screening, vigilance from caregivers and professionals and obtaining reliable self-report of health issues from more able individuals.

In addition to broad health benefits of improved awareness of the increased likelihood of health problems in people with intellectual disability, there is a growing literature reporting an association between pain and self-injurious and aggressive behaviour.

Individuals with intellectual disability are already at increased risk for both pain (as a result of health problems) and self-injurious and aggressive behaviour. Given the impact of these behaviours on the well-being of those showing the behaviour and those who care for them, it is evident that identification and treatment of painful health conditions in people with intellectual disability may have broad benefits.

Recognising syndrome specific health issues may improve recognition and diagnosis of health conditions in these syndromes, thus mitigating the impact of health problems.

Specific health issues associated with genetic syndromes include gastro-intestinal disorders in Cornelia de Lange syndrome, which results in painful reflux associated with self-injury and increased prevalence of diabetes mellitus (associated with obesity due to hyperphagia) in Prader-Willi syndrome.

Health problems within a syndrome can be diverse and change over the lifespan.  Furthermore, within some syndromes health conditions may vary depending on the underlying genotype, for example while seizures are highly prevalent in Angelman syndrome, the presentation of these seizures may vary depending on the genotype.

Increased awareness of such syndrome specific health problems, their prevalence across the lifespan and the potential for diversity in health problems within a syndrome would aid recognition of both chronic and acute painful health conditions in these populations. This is key to proactive identification and treatment of such conditions.

To read more about syndrome specific health difficulties click on the links below:

Angelman

Cornelia de Lange

Cri du Chat: https://www.findresources.co.uk/the-syndromes/cri-du-chat/health