AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.

Here we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum disorder. SNP array analysis demonstrated a 257 kb deletion comprising exon 6 of AUTS2. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." © 2016 Wiley Periodicals, Inc.

Immediate and delayed treatment with gabapentin, carbamazepine and CNQX have almost similar impact on cognitive functions and behavior in the lithium-pilocarpine model in rats.

In the present study, we aimed to investigate the effects of immediate and delayed treatment with intracerebroventricular (i.c.v.) gabapentin (GBP), carbamazepine (CBZ) and 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX) on learning and memory, anxiety, and locomotor activity in rats with lithium-pilocarpine-induced status epilepticus (SE). SE was induced by intraperitoneal injections of 3mEq/kg LiCl followed by 45mg/kg pilocarpine 24h later. In the first series of experiments, rats were divided into four groups three hours after the onset of SE and received GBP (100µg/10µl, two times a day; i.c.v.), CBZ (200µg/10µl; i.c.v.), CNQX (25nmol/10µl; i.c.v.) or saline (10µl; i.c.v.) for 7days. Six weeks after SE, cognitive and behavioral performances were evaluated by Morris water maze, elevated plus maze, and open field tests. In the second series, rats received no treatment for six weeks following SE. On the seventh week the same treatment with the previous rats was given and six weeks later the cognitive and behavioral tests were applied. SE significantly impaired spatial learning and memory in the Morris water maze. GBP treatment improved the acqusition and memory performance. CNQX worsened the acqusition but improved the memory performance, while CBZ worsened both parameters. In the elevated plus maze, epileptic rats which received saline showed significantly lower anxiety levels with respect to the naive rats. Only CBZ led to further anxiolysis, while the other drugs had no effect. Locomotor activity significantly increased due to SE, which was augmented by GBP and CNQX. The impact of immediate and delayed treatment with these drugs on cognition and behavior seems to be quite similar.