Walter E. Kaufmann

Profile of Behavioral Comorbidities in Children With Fragile X Syndrome.

Blarcamesine improves EEG biomarkers of cortical dysfunction in a mouse model of fragile X syndrome

Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism spectrum disorder. Previous studies in the Fmr1 knockout (KO) mouse model of FXS and affected individuals have identified common electroencephalographic (EEG) abnormalities, which constitute biomarkers of cortica...

Rett syndrome in the therapeutic era: Rethinking diagnosis, boundaries, clinical outcomes, and financing.

Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by multiple neurological impairments, which affects predominantly females. It is associated, in most cases, with pathogenic variants in MECP2, the gene encoding the methyl-CpG-binding protein 2. In the four decades since its description in the En...