A novel care pathway for prisoners with intellectual disability designed through a Delphi process.

PURPOSE: Individuals with an intellectual disability (ID) form a significant minority in the Irish prison population and worldwide prison populations. There is growing recognition that specialist services for such individuals are in need of development. The purpose of this paper is to propose a care pathway for the management of individuals with an ID who present in prison, based on expert elicitation and consensus. DESIGN/METHODOLOGY/APPROACH: A convenience sample of professionals with a special interest in forensic intellectual disabilities was invited to participate in a Delphi exercise. In total, 12 agreed to participation and 10 subsequently completed the study (83.3 per cent). Expert views were elicited using a semi-structured questionnaire. Content analysis was completed using NVivo 11 software. A care pathway was subsequently proposed, based on the outcomes of the analysis, and circulated to participants for debate and consensus. A consensus was reached on management considerations. FINDINGS: Ten experts across a range of disciplines with a combined experience of 187 years participated in the study. Current provision of care was seen as limited and geographically variable. The vulnerability of prisoners with ID was highlighted. The need for equivalence of care with the community through multidisciplinary input and development of specialist secure and residential placements to facilitate diversion was identified. Consensus was achieved on a proposed care pathway. ORIGINALITY/VALUE: This study proposes a care pathway for the assessment and management of prisoners with an ID and is, therefore, potentially relevant to those interested in this topic internationally who may similarly struggle with the current lack of decision-making tools for this setting. Although written from an Irish perspective, it outlines key considerations for psychiatrists in keeping with international guidance and, therefore, may be generalisable to other jurisdictions.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given individual in a cost-effective way. The power of this approach has been demonstrated by a number of groups who have identified pathogenic mutations in small pedigrees that have been resistant to traditional genetic mapping. Recently it has become clear that exome sequencing has great potential with respect to sporadic disease and the identification of de novo mutations. This is highlighted by studies reporting whole-exome sequencing of patient-parental trios affected by learning disability, autism and schizophrenia. It is widely anticipated that the introduction of this technique into a clinical setting will revolutionise genetic diagnosis. However, the sensitivity of NGS exome sequencing is currently unclear. Here, we describe the exome sequencing of DNA samples from a patient with double cortex syndrome and her parents, resulting in the detection of a mosaic splicing mutation in LIS1. This variant was found at an allele frequency of just 18%, demonstrating that NGS methods have the capacity to identify pathogenic mosaic mutations present at a low level.