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).

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.

Qigong massage treatment for sensory and self-regulation problems in young children with autism: a randomized controlled trial.

Autism is commonly associated with sensory and self-regulatory disturbances. This article presents a randomized controlled study evaluating the effect of a 5-month intervention directed toward improving sensory impairment, digestion, and sleep in 46 children with autism < age 6. The intervention, Qigong Sensory Training (QST), is a qigong massage intervention based in Chinese medicine.

The role of stereotypies in overselectivity process in Rett syndrome.

Ten Rett syndrome (RS) girls and 10 control girls executed an attentional task in which a complex stimulus was shown followed by individual stimuli presented with distractors. Participants had to discriminate previously presented stimuli from distractors. RS girls carried out the task both in a condition with the containment of stereotypies and in a no-containment condition.

Improvement in sensory impairment and social interaction in young children with autism following treatment with an original Qigong massage methodology.

In clinical research, sensory impairment is considered one of the core deficits in autism and is associated with impaired socialization, behavioral disturbances and bowel and sleep problems. The effectiveness of the Cignolini methodology, an original Qigong massage methodology, in treating sensory impairment in young children with autism was evaluated in a small, controlled study. Thirteen children with autism between the ages of three and six received daily treatment according to the methodology for 5 months.

FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene. MECP2 encodes methyl-CpG-binding protein 2 (MeCP2), which represses gene transcription by binding to 5-methylcytosine residues in symmetrically positioned CpG dinucleotides. Direct MeCP2 targets underlying RTT pathogenesis remain largely unknown.

Clinical profile of a male with Rett syndrome.

We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he underwent comprehensive neurological, metabolic and genetic investigations.

Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies.

The etiology of frequently occurring osteoporosis in Rett syndrome is unknown. Five girls, ages 9.75, 11, 12, 13.