Abstract
At least half of adults with intellectual disability are estimated to have diagnosed or undiagnosed chromosomal or DNA mutations as the cause of their intellectual disability, which, by definition, are rare. Mostly however, associated physical health problems are not rare. An unintended consequence of focus on the rareness of the cause of the intellectual disability, no matter how useful that is to understanding the syndrome, is that it deflects attention away from the relatively common physical health problems that occur in this population, creates a barrier to mainstream health access, and may contribute to the excessive preventable mortality and morbidity observed in this population.
Highlights
At least half of adults with intellectual disability are estimated to have diagnosed or undiagnosed chromosomal or DNA mutations as the cause of their intellectual disability, which, by definition, are rare
An unintended consequence of focus on the rareness of the cause of the intellectual disability, no matter how useful that is to understanding the syndrome, is that it deflects attention away from the relatively common physical health problems that occur in this population, creates a barrier to mainstream health access, and may contribute to the excessive preventable mortality and morbidity observed in this population
A view is presented that the specialist skills of scientist and clinician experts and organization’s in rare causes of intellectual disability in collaboration with mainstream clinicians, health services and the disability sector may contribute to better health outcomes with longer and better quality of life for adults living with rare causes of intellectual disability
Summary
At least half of adults with intellectual disability are estimated to have diagnosed or undiagnosed chromosomal or DNA mutations as the cause of their intellectual disability, which, by definition, are rare. Otherwise well-credentialed medical practitioners and health systems fail when it comes to providing optimal care to adult patients with intellectual disability, in part because the disability and its rare cause overwhelms and obscures the view of the patient as a person living with a rare disability with medical problems, in part because of barriers to access and participation imposed by health systems and professionals, and in part due to inadequate provision of disability supports in health settings [13,15,16].
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