Anti-NMDA-receptor encephalitis presenting with catatonia and neuroleptic malignant syndrome in patients with intellectual disability and autism.

We report anti-N-methyl-d-aspartate (NMDA) receptor encephalitis in two patients with autism and intellectual disability presenting with neuropsychiatric symptoms of catatonia and neuroleptic malignant syndrome. Case reports such as these help raise awareness of this clinical issue. By paving the way for earlier diagnoses they ultimately maximise the potential for curative treatments and prevention of long-term complications.

Impact of care pathway-based approach on outcomes in a specialist intellectual disability inpatient unit.

Specialist intellectual disability inpatient units have come under increased scrutiny, leading to questions about the quality of service provision in this sector. A care pathway-based approach was implemented in such a unit and its impact on outcome variables was measured. The care pathway-based approach resulted in the turnover of more patients, increased capacity for admissions to the unit, reduced lengths of stay in hospital, timely assessments and treatments, which resulted in better outcomes in patients. Care pathway-based approach to service provision provides not only better outcomes in patients but also a reliable way of ensuring true multi-agency working and accountability. If used widely, it can reduce the variability in the quality of current service provision.

Cognitive phenotype of velocardiofacial syndrome: a review.

The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of major mental health difficulties. This paper reviews literature on the cognitive phenotype and its relationship with a polymorphism of the gene coding for catechol O-methyltransferase (COMT), a gene haploinsufficient in VCFS which modulates prefrontal dopamine levels. Principal features of the variable cognitive phenotype of VCFS in young people are ID, superiority of verbal over performance I.Q. and verbal over visuospatial memory, and difficulties with number and object magnitude comparisons, time perception and memory for serial order, and orienting of attention. Despite some improvements with age, problems with higher order attentional tasks involving planning persist, possibly modulated by COMT activity levels. Candidate cognitive endophenotypes include problems with retrieval of contextual information from memory and in executive control and focussing of attention. Longitudinal research using common core batteries of psychometric assessments, and experimental measures of cognitive function capable of direct translation for use with animal models, will further advance understanding of the developmental dynamics of VCFS.