Intellectual Disabilities and Neurocognitive Impairment in Adult Patients with Inherited Metabolic Diseases: A UK Single Centre Experience.

Inherited metabolic diseases (IMDs) are a group of heterogeneous genetic disorders resulting in substrate accumulation, energy deficiency, or complex molecular defects due to the failure of specific molecules to act as enzymes, cofactors, transporters, or receptors in specific metabolic pathways. The pathophysiological changes seen in IMDs are sometimes associated with intellectual disability (ID) or neurocognitive decline, necessitating multidisciplinary input. We here describe our experience at one tertiary metabolic centre in the UK. We reviewed the case prevalence and existing service provision in one adult IMD service covering a multi-ethnic population of 10 million in North England. In our cohort of 2268 IMD patients, 1598 patients had general metabolic conditions (70.5%), and 670 had lysosomal storage disease/disorders (LSD)s (29.5%). The overall prevalence of ID and neurocognitive decline was found to be 15.7% (n = 357), with patients with LSDs accounting for 23.5% (n = 84) of affected patients. Given the prevalence of ID in adults with IMDs, access to multidisciplinary input from neuropsychology and neuropsychiatry services is important. Education of healthcare professionals to diagnose IMDs in patients with ID, in addition to neurocognitive and neuropsychiatric presentations, will avoid missed diagnoses of IMD and will have a positive effect on patient outcomes.

Homozygous HLA-DQB1*06:02 combined with T-cell receptor alpha polymorphism results in narcolepsy onset - A familial case report.

Narcolepsy is a life-long neurological disorder with well-established genetic risk factors. Human leukocyte antigen-DQB1*06:02 remains the strongest genetic predeterminant; however, polymorphisms in genes encoding the T-cell receptor alpha chain are also strongly linked. This case report shows the inheritance pathway of these genetic markers contributing to narcolepsy onset in a 17-year-old female.

Audit of epilepsy healthcare provision in a large UK category B prison.

PURPOSE: We reviewed all prisoners diagnosed with epilepsy within a large UK category B prison: collecting demographic information and the prevalence and nature of their seizure disorder; and reviewed standards of their epilepsy healthcare provision. Previous work has highlighted poorer seizure control and limited access to specialist services in this patient group. METHODS: Fifty-five male prisoners with a previously established diagnosis of epilepsy were identified by the prison healthcare manager during the six-month audit period. Anonymised audit data was collected during clinical interviews undertaken by members of a regional specialist epilepsy service and recorded on a standardised proforma. Data collection occurred during six prison visits within the audit period. RESULTS: Point prevalence of epilepsy was 2%. Data suggest that demographics are complex and challenging in this patient group. We found increased rates of alcohol (40%) and drug (82%) misuse and mental health problems (85.5%). Just over one third of cases were prescribed medications with potential for misuse (diversion). Further optimization of anti-seizure medication (ASM) regimens was required in 67.3% of the study sample, with only 12.7% of cases being free of seizures for the last 12 months. Access to specialist epilepsy services was limited; only 38.2% had a specialist review in the last 12 months. Most cases (76.4%) did not recall receiving guidance on precautions that should be taken regarding duties or cell arrangements in relation to having a diagnosis of epilepsy. CONCLUSIONS: Tighter collaboration between prison healthcare and local NHS specialist services is recommended to optimise epilepsy healthcare in UK prison settings.

The development of an outcome measure for liaison mental health services.

Aims and methodTo develop and pilot a clinician-rated outcome scale to evaluate symptomatic outcomes in liaison psychiatry services. Three hundred and sixty patient contacts with 207 separate individuals were rated using six subscales (mood, psychosis, cognition, substance misuse, mind-body problems and behavioural disturbance) plus two additional items (side-effects of medication and capacity to consent for medical treatment). Each item was rated on a five-point scale from 0 to 5 (nil, mild, moderate, severe and very severe). RESULTS: The liaison outcome measure was acceptable and easy to use. All subscales showed acceptable interrater reliability, with the exception of the mind-body subscale. Overall, the measure appears to show stability and sensitivity to change.Clinical implicationsThe measure provides a useful and robust way to determine symptomatic change in a liaison mental health setting, although the mind-body subscale requires modification.Declaration of interestNone.

Cognitive function in early psychosis patients from a lower middle-income country.

OBJECTIVES: To establish evidence of cognitive changes in early psychosis (EP) patients compared to healthy controls (HC) in Pakistan. METHODS: Fifty-one participants with EP were recruited from psychiatric units in Karachi and Rawalpindi, Pakistan and matched with 51 HC. Neurocognitive domains were assessed using standardised neuropsychological tests [the Stroop test, block design, Matrix Reasoning, picture completion, object assembly, oral fluency, memory for design, Coughlan learning task (verbal and visual)]. RESULTS: EP patients had higher scores than controls for both Stroop tests (T1: EP = 122 HC = 65, p <.001; T2: EP = 190 HC = 153, p = .007) and memory for design test (EP = 10 HC = 3, p = .005). EP group had lower values for block design (EP = 4, HC = 11, p = .01), category fluency (EP = 18.9, HC = 26.1, p < .001), Coughlan verbal tasks (EP = 36.4 NC = 51.5, p < .001), matrix reasoning (EP = 4 NC = 10, p < .001), picture completion (EP = 4 NC = 6, p = .003) and object assembly (EP = 10.7, HC = 15.5, p = .002). There were limited significant associations between cognitive performance and PANSS scores. CONCLUSIONS: Reduced cognitive performance was found across multiple domains in Pakistani EP patients, which suggests that impaired cognitive performance is homogenous in patients with schizophrenia, regardless of ethnicity.

Self-disembowelment during delirium tremens: why early diagnosis is vital.

Delirium tremens is a serious yet treatable complication of alcohol withdrawal. Timely diagnosis is critical as there are well-established treatment regimens that provide symptomatic relief within hours to days. We report the case of a 34-year-old man with an undisclosed history of alcohol dependency. He presented with paranoid beliefs and was transferred to a psychiatric inpatient unit with suspected schizophrenia. Classic features of delirium tremens such as sympathetic overdrive and visual hallucinations were not salient features of his presentation. Within 24 hours of admission, he sustained major self-inflicted abdominal stab wounds and extracted a metre of small bowel as a result of command hallucinations. The possibility of delirium tremens was raised by the receiving trauma team and he responded rapidly to benzodiazepines. Emergency jejunal reanastomosis was successful. This case highlights the fact that delirium tremens may present atypically and that associated command hallucinations can confer grave risks.

Opening the 'black box': liaison psychiatry services and what they actually do.

Aims and method To develop a simple, pragmatic typology to characterise the nature of liaison interventions delivered by a liaison service in a National Health Service setting. We carried out a retrospective electronic case-note review of referrals to a ward-based liaison psychiatry service. Results Three hundred and forty-four patients were referred to the service over a 12-month period. Ten different types of liaison interventions were identified, with the most common interventions being diagnosis (112 patients, 32.6%), medication management (57 patients, 16.6%), risk assessment and treatment (56 patients, 16.3% each). Mental Health Act work accounted for the greatest number of contacts per patient (median 7). Clinical implications There are inherent limitations in any single-site observational study, as site-specific results cannot be generalised to other liaison services. The intervention categories we developed, however, are easy to use and will provide a way of comparing and benchmarking the range of interventions delivered by different liaison psychiatry services.