Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England. CNV pathogenicity was assessed using standard clinical diagnostic methods and participants underwent comprehensive medical and psychiatric phenotyping. We found an 11% yield of likely pathogenic CNVs (22/202). CNVs at recurrent loci, including the 15q11-q13 and 16p11.2-p13.11 regions were most frequently observed. We observed an increased frequency of 16p11.2 duplications compared with those reported in single-disorder cohorts. CNVs were also identified in genes known to effect neurodevelopment, namely NRXN1 and GRIN2B. Furthermore deletions at 2q13, 12q21.2-21.31 and 19q13.32, and duplications at 4p16.3, 13q32.3-33.3 and Xq24-25 were observed. Routine CMA in ID psychiatry could uncover ~11% new genetic diagnoses with potential implications for patient management. We advocate greater consideration of CMA in the assessment of adults with idiopathic ID presenting to psychiatry services.
Purpose -The use of violence risk assessment measures within intellectual disabilities (ID) services is now the norm and a growing target for research. The purpose of this paper is to examine the clinical utility of the historical and clinical factors of the HCR-20 in predicting violence. Design/methodology/approach -The study took place within a national low secure service for adults with ID examining all completed admissions over a six-year period, (N ¼ 22). Clinical records covering the first three months of admission were examined along with historical reports and incident data recorded at three, six, nine and 12 months admission using the Modified Overt Aggression Scale (MOAS). Findings -Significant positive relationship between Historical score and total number of incidents was established. Patients with challenging behaviour less likely to have a previous history of violence, and more likely to be older at first violent incident than patients without challenging behaviour. Incidents involving patients with autism were less severe and those with no additional psychiatric diagnosis were significantly more likely to have substance misuse problems than those with a diagnosis. Originality/value -The study found the Historical section was predictive of violent incidents and whilst the study is too small to draw any firm conclusions, the significant positive relationship between the Historical Score and number of incidents for those without additional diagnosis needs to be investigated further as well as the potential positive clinical impact of using the HCR-20 in routine clinical practice.
Purpose -People with an intellectual disability are at an increased risk of developing a mental illness. An estimated 50 per cent develop a significant psychiatric problem at some point in their lives. Since the shifting trend to treat and manage individuals in the community setting, there are concerns over the lack of guidance of how intellectual disability mental health services in the community should be organised. This paper aims to address this issue.Design/methodology/approach -Details of all new referrals made to the mental health of intellectual disability team in Dartford, Kent over a 12-month period were collated and a questionnaire was used to gather retrospective data of each referral pathway.Findings -There were 50 patients referred in total, with the primary source being GPs (58 per cent). In total, 40 per cent of all referrals were considered to be inappropriate for the mental health of intellectual disability team and the majority of these originated from the adult mental health and child and adolescent mental health service teams.Originality/value -These findings identify areas of focus for closer liaison with colleagues to improve the quality of referrals and to reduce the demands placed on our service.
Purpose The purpose of this paper is to review a case of a man with a mild learning disability and autistic spectrum disorder who successfully appealed against a Deprivation of Liberty Safeguards authorisation under English law. Design/methodology/approach The authors wanted to identify the factors contributing to the individual’s deprivation of liberty and subsequent successful appeal. The authors examined the accounts from the experts involved on each side of the case including different views on the person’s capacity to make certain decisions. The authors examined several of the individual’s psychological and psychiatric assessments. The authors interviewed the individual on two occasions: once during the appeals process, and following his successful appeal. Findings The authors identified several reasons as to why the individual was successful in appealing against the Deprivation of Liberty Safeguards. First, the individual was able to seek legal support to appeal independently. Second, experts involved on each side of the case had differing opinions regarding capacity to make certain decisions. Third, the indication for the Deprivation of Liberty Safeguards was subsequently declared not valid. Finally, the authors found that the quality of life and psychological well-being for the individual improved following removal of restrictions. Practical implications The authors highlight the wider issues relating to an individuals’ rights to challenge authorisations in the Court of Protection as well as to future considerations and directions of the Deprivation of Liberty Safeguards legislation in light of evolving case law. Social implications The authors highlight the importance of empowering patients in matters relating to their care and treatment, as well as protecting their human rights, dignity and autonomy. Originality/value The authors examine the barriers to challenging Deprivation of Liberty Safeguards authorisation and the ever-evolving Deprivation of Liberty Safeguards process.
Purpose The purpose of this paper is to examine the content and style of clinic letters written by psychiatrists and to compare these with national guidelines and standards. To then consider the impact that writing directly to patients and carers has on their feeling of inclusion and understanding via a questionnaire. Design/methodology/approach Two audits were completed, the first was carried out in 2012 and the second during 2014 with both being over a three-month period. The first 50 clinic letters sent out during these periods were examined using an audit tool that was developed using national standards from the Department of Health and the Royal College of Psychiatrists. A questionnaire was then devised in 2016 and sent to patients and carers regarding their views on the simplified clinic letters that were written directly to them. Findings In the original audit none of the letters were simplified and written to the patient whereas in the re-audit 66 per cent were simplified. The questionnaire sent out to patients and carers revealed that 50 per cent of patients felt that the simplified letter helped them to feel more included and gave them a better understanding of their care. Originality/value This paper highlights the potentially positive impact of writing simplified clinic letters directly to patients with intellectual disability and their carers. It also includes a clinic letter format designed so that medical information is not lost in the written communication and so that the service’s workload is not impacted on by having to write two separate letters to the patient and to their GP.
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