ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of KATP channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function.

Standardization and adult norms for the sequential subtracting tasks of serial 3's and 7's.

The Serial 3's and 7's subtraction tasks are traditionally used in mental status examinations. The usefulness of these tasks is based upon the assumption that they measure attention and mental concentration. However, there is no uniform method of administration, and there are no recognized norms for these subtraction tasks, which has led some in the field of psychiatry and neuropsychology to conclude that the tests are not useful. The purpose of this research had three goals: (a) to create a standardization of the administration, (b) to provide a structured and consistent framework for the data evaluation, and (c) to create adult norms as a frame of reference for interpretation. The study investigated normal control subjects (N = 204) and specific variables of interest included both efficiency and accuracy of performance. The results demonstrated that when used conjointly, Serial 3's and Serial 7's are an efficient and accurate measure of sequential subtracting, but even more importantly, the study revealed the hierarchical increase in cognitive demand when the performances between 3's and 7's were compared. With standardization and norms, serial subtraction becomes a more effective screening technique within the context of a mental status examination. Similarly, the conjoint administration of these tasks yields synergistic data that can be useful in determining deficits in the cognitive domains of attention and working memory.