Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the MECP2 gene. In the absence of MeCP2, expression of FXYD domain-containing transport regulator 1 (FXYD1) is deregulated in the frontal cortex (FC) of mice and humans. Because Fxyd1 is a membrane protein that controls cell excitability by modulating Na, K-ATPase activity (NKA), an excess of Fxyd1 may reduce NKA activity and contribute to the neuronal phenotype of Mecp2 deficient (KO) mice.

Neurophysiological and cognitive effects of Transcranial Direct Current Stimulation in three girls with Rett Syndrome with chronic language impairments.

Background: this study was based on both neurophysiological decelerated activity and communication deficits in Rett Syndrome (RTT).

Aims: the aim was to examine the neurophysiological and cognitive effects of Transcranial Direct Current Stimulation (tDCS) in three girls with RTT with chronic language impairments.

Methods And Procedures: we proposed an integrated intervention: tDCS and cognitive empowerment applied to language in order to enhance speech production (new functional sounds and new words).

Effect of unilateral knee extensor fatigue on force and balance of the contralateral limb.

Purpose: Fatigue in one limb can decrease force production in the homologous muscle as well as other muscles of the non-fatigued limb affecting balance. The objective of the study was to examine the effect of unilateral knee extensor fatigue on the non-fatigued limb's standing balance, muscle force and activation.

Method: Sixteen healthy male subjects performed pre-fatigue balance trials, warm-up exercises, maximum voluntary isometric contractions, a knee extensors fatigue protocol, and post-fatigue balance trials.

Early Intervention with a Parent-Delivered Massage Protocol Directed at Tactile Abnormalities Decreases Severity of Autism and Improves Child-to-Parent Interactions: A Replication Study.

Tactile abnormalities are severe and universal in preschool children with autism. They respond well to treatment with a daily massage protocol directed at tactile abnormalities (QST massage for autism). Treatment is based on a model for autism proposing that tactile impairment poses a barrier to development.

Correcting deregulated Fxyd1 expression ameliorates a behavioral impairment in a mouse model of Rett syndrome.

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2. Several genes have been shown to be MECP2 targets. We previously identified FXYD1 (encoding phospholemman; a protein containing the motif phenylalanine-X-tyrosine-aspartate), a gene encoding a transmembrane modulator of the Na, K-ATPase (NKA) enzyme, as one of them.