Adaptations to research within the intellectual disability population during the COVID-19 pandemic: Lessons learned from the CAREVIS study.

The COVID-19 pandemic resulted in changes in all areas of clinical practice, including clinical research and within the intellectual disability population. While there have been some benefits from this rapid adoption of change, those involved in research have had to overcome a number of additional challenges. These adaptive changes, which have included the use of technology, closure of social spaces, working with specific groups who are more vulnerable to COVID-19, and mask use impairing communication, have had both positive and negative impacts on research. As the pandemic and related restrictions evolve, it is important to examine the changes that have occurred. In the future, the adoption of a hybrid model in research is likely to be a common approach, establishing a balance between technology and in-person interaction.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and learning disability. We confirmed maternal inheritance in 39 families and demonstrated that tissue segregation patterns and phenotypic threshold are variant dependent. Our findings suggest that MT-ATP6-related mitochondrial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. ANN NEUROL 2019;86:310-315.

Clozapine and Sweet's syndrome: case report.

A patient developed fever, raised inflammatory markers and a maculopapular rash following commencement of clozapine for treatment of his schizoaffective disorder. Skin biopsy confirmed Sweet's syndrome. Identification of the cause was challenging, with a number of possible considerations including infection, malignancy and various potential drug triggers.This case highlights the difficulties in the diagnosis of Sweet's syndrome, as well as in identifying the original trigger, which can have significant consequences for management. Withdrawal of potentially causative drugs must be balanced with their benefits, and decisions must be made in the best interests of the patient. Following two courses of prednisolone and withdrawal of clozapine, the patient's rash and systemic symptoms resolved. This confirmed the diagnosis of drug-induced Sweet's syndrome, with clozapine as the offending agent. His mental state stabilised on an alternative antipsychotic.