Designing genetic studies for people with intellectual disabilities: Practical lessons from a pilot study

Abstract

Genetic variations are overrepresented in people with intellectual disability (PwID), particularly those with physical and mental health co-morbidities, but remain significantly under-diagnosed. Lack of suitable research studies, a natural extension of the complexities posed of consenting and recruitment is considered culpable. There is a resultant dearth of evidence on establishing bespoke genetic studies for adult PwID. This report outlines the challenges faced in the implementation and administration of a pilot genetic study for adult PwID hoping to better inform future genetic study designs for PwID. Adult participants with a diagnosis of ID (ICD10 F70-F73) and epilepsy (ICD10 G40) were recruited to The Peninsula study exploring genomic stratification in intellectual disability and epilepsy via the ethically approved Royal Devon and Exeter Tissue Bank (RDETB) (16/SC/016). Managed within the National Institute for Health Research (NIHR) Exeter Clinical Research Framework, the RDETB was set up to proactively collect and store 'spare' tissue from routine clinical procedures such as venepunctures for routine good practice biochemistry monitoring. Participants who satisfied the criteria for the

The potential for medicinal cannabis to help manage challenging behaviour in people with intellectual disability: A perspective review

“…PwID are often excluded in research groups for a variety of reasons, including concerns about consent and vulnerability ( Sellers et al, 2022 ). Due to the lack of a robust evidence base, there also remains the question over the both the benefits and risks of possible unknown harms of using cannabis-based medicines.…”